A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1053516

Internal ID

19142735

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:31125097..31254177	hg38	UCSC Ensembl
Inner	chr12:31278031..31407111	hg19	UCSC Ensembl
Inner	chr12:31169298..31298378	hg18	UCSC Ensembl

Cytoband

12p11.21

Allele length

Assembly	Allele length
hg38	129081
hg19	129081
hg18	129081

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3710485, nssv3710464, nssv3516901, nssv3504855, nssv3504003, nssv3710414, nssv3522491, nssv3522142, nssv3513563, nssv3513068, nssv3710474, nssv3513198, nssv3511355, nssv3710492, nssv3521347, nssv3710453, nssv3510837, nssv3512489, nssv3518884, nssv3510137, nssv3513230, nssv3522518, nssv3710398, nssv3505573, nssv3509723, nssv3515547, nssv3710473, nssv3509288, nssv3710417, nssv3516758, nssv3510171, nssv3515334, nssv3710420, nssv3710429, nssv3507844, nssv3520560, nssv3710463, nssv3710459, nssv3516318, nssv3509345, nssv3710416, nssv3710487, nssv3506502, nssv3710396, nssv3518561, nssv3710457, nssv3513968, nssv3515730, nssv3710445, nssv3710490, nssv3504602, nssv3516295, nssv3516387, nssv3710484, nssv3505142, nssv3521973, nssv3505418, nssv3710405, nssv3512066, nssv3710491, nssv3517134, nssv3505276, nssv3518912, nssv3710458, nssv3521320, nssv3515435, nssv3515027, nssv3514309, nssv3710406, nssv3516604, nssv3516242, nssv3515741, nssv3514491, nssv3511151, nssv3521440, nssv3510000, nssv3502842, nssv3710436, nssv3506476, nssv3710410, nssv3519488, nssv3710443, nssv3710424, nssv3516314, nssv3710477, nssv3518953, nssv3710455, nssv3506494, nssv3504325, nssv3710456, nssv3710427, nssv3511780, nssv3710411, nssv3710451, nssv3710450, nssv3506353, nssv3503590, nssv3710433, nssv3710391, nssv3710476, nssv3519698, nssv3510241, nssv3710454, nssv3510525, nssv3509933, nssv3519322, nssv3518652, nssv3516783, nssv3509909, nssv3508588, nssv3710419, nssv3519812, nssv3508112, nssv3509908, nssv3710483, nssv3514043, nssv3502951, nssv3710444, nssv3710486, nssv3508191, nssv3710426, nssv3507817, nssv3503747, nssv3710452, nssv3710421, nssv3710400, nssv3510264, nssv3507051, nssv3504741, nssv3517194, nssv3503081, nssv3517972, nssv3517959, nssv3710404, nssv3504171, nssv3710392, nssv3505401, nssv3710481, nssv3520278, nssv3519643, nssv3710431, nssv3517304, nssv3710468, nssv3519818, nssv3522400, nssv3518109, nssv3518355, nssv3710430, nssv3519359, nssv3513888, nssv3506382, nssv3510838, nssv3710407, nssv3504100, nssv3519230, nssv3514975, nssv3513267, nssv3503600, nssv3710439, nssv3520462, nssv3710470, nssv3504076, nssv3710447, nssv3522250, nssv3507898, nssv3710489, nssv3508787, nssv3710480, nssv3710413, nssv3710441, nssv3505506, nssv3710422, nssv3511385, nssv3503372, nssv3514792, nssv3505066, nssv3520978, nssv3514472, nssv3508545, nssv3710434, nssv3710418, nssv3710412, nssv3519064, nssv3503091, nssv3710460, nssv3511002, nssv3519654, nssv3507616, nssv3710440, nssv3512815, nssv3516244, nssv3519215, nssv3509533, nssv3710479, nssv3710403, nssv3510614, nssv3521004, nssv3520654, nssv3503631, nssv3710442, nssv3710466, nssv3710465, nssv3516129, nssv3710478, nssv3507150, nssv3505105, nssv3521156, nssv3511311, nssv3710432, nssv3710428, nssv3518785, nssv3512985, nssv3518632, nssv3710462, nssv3520459, nssv3519558, nssv3509732, nssv3515964, nssv3512356, nssv3512267, nssv3512355, nssv3518951, nssv3512315, nssv3512174, nssv3514875, nssv3506075, nssv3710446, nssv3521580, nssv3508386, nssv3710394, nssv3504266, nssv3518384, nssv3710475, nssv3510255, nssv3710467, nssv3517239, nssv3710482, nssv3710409, nssv3507665, nssv3710415, nssv3518952, nssv3509917, nssv3506369, nssv3519384, nssv3510282, nssv3710393, nssv3506975, nssv3516879, nssv3513763, nssv3710461, nssv3505751, nssv3511256, nssv3710471, nssv3519905, nssv3518675, nssv3518062, nssv3520946, nssv3512023, nssv3518665, nssv3510944, nssv3519404, nssv3505141, nssv3503830, nssv3518379, nssv3506240, nssv3516215, nssv3515956, nssv3511249, nssv3522106, nssv3514799, nssv3507276, nssv3710401, nssv3509696, nssv3522135, nssv3511856, nssv3710425, nssv3710408, nssv3511534, nssv3710435, nssv3710395, nssv3509548, nssv3504265, nssv3710493, nssv3517152, nssv3509002, nssv3710397, nssv3514293, nssv3710399, nssv3509496, nssv3710448, nssv3521262, nssv3507285, nssv3710438, nssv3511551, nssv3505333, nssv3710423, nssv3710402, nssv3518167, nssv3509161, nssv3505934, nssv3504369, nssv3507849, nssv3518715, nssv3710472, nssv3710449, nssv3522155, nssv3505428, nssv3710469, nssv3710437, nssv3519408, nssv3512091, nssv3511628, nssv3710488, nssv3510430

Samples

Known Genes

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	314
Observed Loss	0
Observed Complex	0
Frequency	n/a