A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv546829

Internal ID

15987552

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:93822968..93825696	hg38	UCSC Ensembl
Inner	chr1:94288524..94291252	hg19	UCSC Ensembl
Inner	chr1:94061112..94063840	hg18	UCSC Ensembl

Cytoband

1p22.1

Allele length

Assembly	Allele length
hg38	2729
hg19	2729
hg18	2729

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv719482, nssv719526, nssv719561, nssv719504, nssv719417, nssv719532, nssv719535, nssv719383, nssv719443, nssv719388, nssv719493, nssv719375, nssv719488, nssv719425, nssv719399, nssv719401, nssv719513, nssv719432, nssv719467, nssv719380, nssv719554, nssv719372, nssv719551, nssv719523, nssv719419, nssv719371, nssv719433, nssv719390, nssv719477, nssv719462, nssv719340, nssv719446, nssv719508, nssv719567, nssv719349, nssv719494, nssv719456, nssv719402, nssv719455, nssv719511, nssv719353, nssv719478, nssv719512, nssv719575, nssv719347, nssv719507, nssv719369, nssv719558, nssv719545, nssv719394, nssv719499, nssv719344, nssv719457, nssv719451, nssv719489, nssv719429, nssv719562, nssv719497, nssv719556, nssv719538, nssv719503, nssv719480, nssv719549, nssv719434, nssv719428, nssv719415, nssv719361, nssv719396, nssv719350, nssv719572, nssv719483, nssv719541, nssv719506, nssv719435, nssv719540, nssv719430, nssv719536, nssv719418, nssv719570, nssv719445, nssv719379, nssv719577, nssv719498, nssv719416, nssv719374, nssv719491, nssv719393, nssv719521, nssv719487, nssv719403, nssv719381, nssv719522, nssv719387, nssv719474, nssv719468, nssv719341, nssv719579, nssv719516, nssv719365, nssv719450, nssv719412, nssv719452, nssv719564, nssv719495, nssv719490, nssv719356, nssv719544, nssv719547, nssv719411, nssv719422, nssv719431, nssv719357, nssv719368, nssv719398, nssv719529, nssv719520, nssv719519, nssv719509, nssv719460, nssv719514, nssv719439, nssv719582, nssv719444, nssv719471, nssv719486, nssv719546, nssv719370, nssv719475, nssv719352, nssv719376, nssv719559, nssv719378, nssv719476, nssv719449, nssv719386, nssv719346, nssv719563, nssv719492, nssv719407, nssv719351, nssv719464, nssv719552, nssv719461, nssv719525, nssv719569, nssv719389, nssv719534, nssv719481, nssv719550, nssv719423, nssv719533, nssv719485, nssv719392, nssv719581, nssv719410, nssv719358, nssv719505, nssv719463, nssv719395, nssv719364, nssv719466, nssv719560, nssv719362, nssv719531, nssv719437, nssv719373, nssv719366, nssv719472, nssv719573, nssv719409, nssv719355, nssv719440, nssv719548, nssv719568, nssv719524, nssv719479, nssv719542, nssv719354, nssv719502, nssv719517, nssv719484, nssv719359, nssv719420, nssv719557, nssv719404, nssv719473, nssv719348, nssv719424, nssv719518, nssv719360, nssv719397, nssv719400, nssv719447, nssv719539, nssv719500, nssv719527, nssv719454, nssv719367, nssv719421, nssv719458, nssv719384, nssv719528, nssv719469, nssv719448, nssv719438, nssv719553, nssv719342, nssv719510, nssv719413, nssv719530, nssv719343, nssv719406, nssv719543, nssv719345, nssv719382, nssv719555, nssv719385, nssv719496, nssv719453, nssv719405, nssv719391, nssv719501, nssv719470, nssv719436, nssv719574, nssv719426, nssv719442, nssv719408, nssv719363, nssv719515, nssv719580, nssv719576, nssv719571, nssv719414, nssv719578, nssv719537, nssv719465, nssv719441, nssv719377, nssv719566, nssv719459, nssv719427, nssv719565

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	1
Observed Loss	242
Observed Complex	0
Frequency	n/a