A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1066531

Internal ID

18809062

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46267481..46674922	hg38	UCSC Ensembl
Inner	chr17:44344847..44752288	hg19	UCSC Ensembl
Inner	chr17:41700624..42107467	hg18	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	407442
hg19	407442
hg18	406844

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3564509, nssv3564487, nssv3564375, nssv3564345, nssv3725457, nssv3564303, nssv3564290, nssv3564434, nssv3564398, nssv3564337, nssv3564508, nssv3564382, nssv3564405, nssv3564346, nssv3564488, nssv3564393, nssv3564501, nssv3564402, nssv3725431, nssv3725418, nssv3564385, nssv3564450, nssv3564327, nssv3564506, nssv3564287, nssv3564378, nssv3564499, nssv3564291, nssv3725421, nssv3564425, nssv3564500, nssv3564426, nssv3725404, nssv3564358, nssv3564391, nssv3564430, nssv3564422, nssv3564464, nssv3564424, nssv3725462, nssv3564309, nssv3564503, nssv3564473, nssv3725419, nssv3564474, nssv3564348, nssv3564365, nssv3564397, nssv3725453, nssv3564440, nssv3725415, nssv3564477, nssv3564510, nssv3725460, nssv3564481, nssv3564368, nssv3564376, nssv3564321, nssv3725423, nssv3564427, nssv3564325, nssv3564292, nssv3564363, nssv3725427, nssv3564478, nssv3564380, nssv3725428, nssv3564404, nssv3725447, nssv3564409, nssv3564364, nssv3564497, nssv3564431, nssv3564495, nssv3564507, nssv3564331, nssv3725463, nssv3564417, nssv3564297, nssv3564418, nssv3564489, nssv3725432, nssv3564463, nssv3725433, nssv3725409, nssv3564435, nssv3564336, nssv3564360, nssv3564388, nssv3564294, nssv3564438, nssv3725448, nssv3564455, nssv3564390, nssv3564448, nssv3564437, nssv3725439, nssv3564335, nssv3564379, nssv3564318, nssv3564400, nssv3725449, nssv3564407, nssv3564467, nssv3564392, nssv3564482, nssv3564369, nssv3725408, nssv3725446, nssv3725425, nssv3725444, nssv3564410, nssv3564367, nssv3564295, nssv3564288, nssv3564429, nssv3564301, nssv3564445, nssv3725464, nssv3564502, nssv3564423, nssv3725443, nssv3564412, nssv3564342, nssv3564441, nssv3564333, nssv3564304, nssv3725426, nssv3564504, nssv3564350, nssv3564465, nssv3725405, nssv3564411, nssv3564310, nssv3564443, nssv3564302, nssv3564449, nssv3564389, nssv3564372, nssv3564317, nssv3564421, nssv3564408, nssv3725459, nssv3725402, nssv3564307, nssv3564366, nssv3564354, nssv3564439, nssv3564453, nssv3564414, nssv3725454, nssv3564466, nssv3564308, nssv3564442, nssv3564320, nssv3725445, nssv3564296, nssv3564472, nssv3564459, nssv3725406, nssv3564406, nssv3564490, nssv3564387, nssv3564374, nssv3564355, nssv3564428, nssv3564315, nssv3725411, nssv3725458, nssv3725424, nssv3564370, nssv3564491, nssv3564353, nssv3564420, nssv3725441, nssv3564492, nssv3564386, nssv3725440, nssv3564359, nssv3564457, nssv3725420, nssv3564451, nssv3564343, nssv3564299, nssv3564479, nssv3564361, nssv3564371, nssv3564323, nssv3564313, nssv3564340, nssv3564316, nssv3725435, nssv3564328, nssv3564300, nssv3564384, nssv3564433, nssv3564289, nssv3725456, nssv3564505, nssv3725450, nssv3725430, nssv3725412, nssv3564436, nssv3564498, nssv3564377, nssv3564344, nssv3564480, nssv3564485, nssv3564373, nssv3564396, nssv3725442, nssv3564352, nssv3564341, nssv3564314, nssv3725436, nssv3564416, nssv3725414, nssv3725452, nssv3564326, nssv3564305, nssv3564444, nssv3564351, nssv3564454, nssv3564339, nssv3564362, nssv3564356, nssv3564293, nssv3564447, nssv3564395, nssv3564461, nssv3564329, nssv3564381, nssv3564475, nssv3564413, nssv3725422, nssv3564432, nssv3564334, nssv3725403, nssv3564460, nssv3564403, nssv3725461, nssv3564446, nssv3564322, nssv3564311, nssv3725455, nssv3725413, nssv3564494, nssv3564512, nssv3564462, nssv3725437, nssv3564484, nssv3725429, nssv3564312, nssv3725416, nssv3725438, nssv3564415, nssv3564338, nssv3564357, nssv3725417, nssv3564399, nssv3564306, nssv3564330, nssv3564319, nssv3564401, nssv3564476, nssv3564324, nssv3564298, nssv3564452, nssv3564496, nssv3564486, nssv3564468, nssv3564458, nssv3564383, nssv3564332, nssv3725451, nssv3564349, nssv3564286, nssv3725434, nssv3564493, nssv3725410, nssv3564470, nssv3564456, nssv3564511, nssv3564394, nssv3564347, nssv3564483, nssv3564419, nssv3725407, nssv3564469, nssv3564471

Samples

Known Genes

ARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1

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	29084
Observed Gain	169
Observed Loss	121
Observed Complex	0
Frequency	n/a