A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1063221

Internal ID

19152440

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46088437..46286792	hg38	UCSC Ensembl
Inner	chr17:44165803..44364158	hg19	UCSC Ensembl
Inner	chr17:41521621..41719935	hg18	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	198356
hg19	198356
hg18	198315

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3547410, nssv3548287, nssv3547350, nssv3720439, nssv3547284, nssv3547451, nssv3547446, nssv3547246, nssv3547487, nssv3547454, nssv3547462, nssv3547443, nssv3548311, nssv3547386, nssv3720435, nssv3548292, nssv3720396, nssv3548323, nssv3547330, nssv3720434, nssv3720378, nssv3720390, nssv3547379, nssv3547539, nssv3547512, nssv3547305, nssv3547453, nssv3547448, nssv3547394, nssv3548297, nssv3547455, nssv3548288, nssv3720419, nssv3547353, nssv3547520, nssv3720459, nssv3547347, nssv3547458, nssv3720441, nssv3547422, nssv3547499, nssv3548294, nssv3720420, nssv3547413, nssv3720470, nssv3547298, nssv3547260, nssv3547439, nssv3720467, nssv3720414, nssv3547236, nssv3547321, nssv3547366, nssv3720379, nssv3547342, nssv3547537, nssv3547315, nssv3720461, nssv3547253, nssv3547472, nssv3547256, nssv3547396, nssv3547391, nssv3547354, nssv3547399, nssv3547513, nssv3547421, nssv3547475, nssv3547409, nssv3547237, nssv3547223, nssv3547490, nssv3547447, nssv3720405, nssv3547535, nssv3720421, nssv3547249, nssv3720451, nssv3547407, nssv3547247, nssv3547270, nssv3720447, nssv3547243, nssv3720466, nssv3720385, nssv3547343, nssv3547352, nssv3548309, nssv3547306, nssv3720381, nssv3547368, nssv3547425, nssv3547288, nssv3547373, nssv3547282, nssv3547349, nssv3720460, nssv3547310, nssv3547517, nssv3547484, nssv3547527, nssv3548317, nssv3547442, nssv3720363, nssv3547252, nssv3548322, nssv3547279, nssv3547429, nssv3547494, nssv3547245, nssv3547493, nssv3547392, nssv3720446, nssv3720369, nssv3720376, nssv3547227, nssv3547261, nssv3720373, nssv3547372, nssv3548300, nssv3720438, nssv3547500, nssv3720368, nssv3548305, nssv3547339, nssv3547326, nssv3547313, nssv3547510, nssv3720417, nssv3548291, nssv3547325, nssv3547224, nssv3720422, nssv3720473, nssv3720393, nssv3548284, nssv3720426, nssv3548283, nssv3547251, nssv3547504, nssv3547393, nssv3547427, nssv3547334, nssv3547378, nssv3547286, nssv3547283, nssv3548293, nssv3547271, nssv3547415, nssv3547480, nssv3720456, nssv3547435, nssv3547259, nssv3547516, nssv3720453, nssv3720384, nssv3547289, nssv3547363, nssv3720474, nssv3547358, nssv3547303, nssv3548310, nssv3720402, nssv3547460, nssv3547492, nssv3547518, nssv3547402, nssv3547351, nssv3720424, nssv3547264, nssv3547345, nssv3720410, nssv3548286, nssv3547430, nssv3547304, nssv3547331, nssv3548316, nssv3548296, nssv3720380, nssv3720443, nssv3547333, nssv3547348, nssv3547382, nssv3720468, nssv3547536, nssv3547389, nssv3548315, nssv3547404, nssv3547505, nssv3547474, nssv3720367, nssv3547281, nssv3720416, nssv3547335, nssv3547463, nssv3720362, nssv3720374, nssv3720442, nssv3547469, nssv3720388, nssv3547360, nssv3720437, nssv3720425, nssv3547370, nssv3547364, nssv3547464, nssv3547295, nssv3547294, nssv3548307, nssv3547387, nssv3547375, nssv3547385, nssv3547301, nssv3547312, nssv3547244, nssv3547398, nssv3547365, nssv3720372, nssv3720364, nssv3548308, nssv3547528, nssv3547231, nssv3547268, nssv3547456, nssv3720454, nssv3547502, nssv3547449, nssv3548295, nssv3547233, nssv3547346, nssv3547232, nssv3547533, nssv3547542, nssv3720440, nssv3547230, nssv3547531, nssv3720392, nssv3547522, nssv3547503, nssv3547302, nssv3547457, nssv3547320, nssv3547254, nssv3547524, nssv3547272, nssv3548289, nssv3547222, nssv3720408, nssv3547401, nssv3547523, nssv3547357, nssv3547395, nssv3547416, nssv3547332, nssv3548320, nssv3547461, nssv3547534, nssv3547485, nssv3720476, nssv3547374, nssv3547433, nssv3547508, nssv3547242, nssv3720403, nssv3547423, nssv3548318, nssv3720395, nssv3547481, nssv3720427, nssv3548282, nssv3548281, nssv3720370, nssv3547356, nssv3547324, nssv3547297, nssv3547225, nssv3547408, nssv3720400, nssv3720387, nssv3547240, nssv3720375, nssv3547250, nssv3548313, nssv3547241, nssv3547340, nssv3720399, nssv3547403, nssv3548321, nssv3547445, nssv3547383, nssv3720359, nssv3547316, nssv3547506, nssv3720412, nssv3547226, nssv3720450, nssv3547292, nssv3720423, nssv3547541, nssv3720404, nssv3720455, nssv3547511, nssv3547486, nssv3547361, nssv3547263, nssv3547526, nssv3547471, nssv3547468, nssv3720472, nssv3547344, nssv3547418, nssv3547380, nssv3720394, nssv3547426, nssv3547277, nssv3547336, nssv3547229, nssv3720458, nssv3547367, nssv3547299, nssv3547466, nssv3720431, nssv3720413, nssv3547515, nssv3547498, nssv3547424, nssv3547417, nssv3547400, nssv3547255, nssv3720391, nssv3720411, nssv3548290, nssv3548324, nssv3547473, nssv3547228, nssv3547438, nssv3547406, nssv3547269, nssv3720444, nssv3720377, nssv3547507, nssv3547322, nssv3547359, nssv3547436, nssv3547369, nssv3547529, nssv3720383, nssv3547362, nssv3547278, nssv3720463, nssv3720433, nssv3547291, nssv3720464, nssv3720360, nssv3547414, nssv3720389, nssv3547470, nssv3720409, nssv3547476, nssv3547280, nssv3720401, nssv3720407, nssv3547311, nssv3547501, nssv3720428, nssv3547538, nssv3547338, nssv3720406, nssv3547388, nssv3720465, nssv3548302, nssv3547384, nssv3547328, nssv3547532, nssv3547509, nssv3547381, nssv3547248, nssv3720471, nssv3720462, nssv3547437, nssv3547262, nssv3547290, nssv3547273, nssv3547540, nssv3547327, nssv3548319, nssv3547452, nssv3720418, nssv3547467, nssv3720448, nssv3547308, nssv3547477, nssv3548306, nssv3547276, nssv3547479, nssv3547459, nssv3720445, nssv3720429, nssv3547257, nssv3547440, nssv3720386, nssv3547341, nssv3547431, nssv3547497, nssv3547376, nssv3720436, nssv3720366, nssv3547267, nssv3720475, nssv3547482, nssv3547491, nssv3548299, nssv3548312, nssv3720430, nssv3547530, nssv3547434, nssv3548301, nssv3548298, nssv3720452, nssv3547265, nssv3547496, nssv3547314, nssv3547318, nssv3548285, nssv3547235, nssv3547489, nssv3720398, nssv3547428, nssv3547420, nssv3547412, nssv3720469, nssv3548304, nssv3547329, nssv3547285, nssv3547432, nssv3720397, nssv3547287, nssv3547444, nssv3547483, nssv3547519, nssv3720457, nssv3547397, nssv3547337, nssv3547495, nssv3547488, nssv3547450, nssv3547377, nssv3547514, nssv3547478, nssv3547521, nssv3547266, nssv3548303, nssv3547317, nssv3547309, nssv3547274, nssv3547239, nssv3547525, nssv3547319, nssv3547465, nssv3720415, nssv3547323, nssv3720432, nssv3547390, nssv3547258, nssv3547238, nssv3547300, nssv3547275, nssv3548314, nssv3547293, nssv3720365, nssv3547411, nssv3547234, nssv3547419, nssv3547307, nssv3547296, nssv3720371, nssv3547405, nssv3547355, nssv3547371, nssv3720449, nssv3720361, nssv3547441, nssv3720382

Samples

Known Genes

KANSL1, KANSL1-AS1, LOC644172

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	483
Observed Loss	0
Observed Complex	0
Frequency	n/a