A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1052764

Internal ID

19141983

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:20056971..22300068	hg38	UCSC Ensembl
Inner	chr15:20262224..22588019	hg19	UCSC Ensembl
Inner	chr15:18522238..20089383	hg18	UCSC Ensembl

Cytoband

15q11.1

Allele length

Assembly	Allele length
hg38	2243098
hg19	2325796
hg18	1567146

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3538530, nssv3538518, nssv3538473, nssv3715911, nssv3715908, nssv3538512, nssv3715917, nssv3538481, nssv3715919, nssv3538532, nssv3538478, nssv3715893, nssv3538451, nssv3538494, nssv3538489, nssv3538524, nssv3538441, nssv3715907, nssv3715898, nssv3538537, nssv3538483, nssv3538453, nssv3538482, nssv3538445, nssv3538437, nssv3538446, nssv3538517, nssv3538536, nssv3538525, nssv3538491, nssv3538472, nssv3538515, nssv3715894, nssv3538455, nssv3538516, nssv3538475, nssv3715901, nssv3538435, nssv3538498, nssv3538501, nssv3538458, nssv3538442, nssv3538434, nssv3538470, nssv3715914, nssv3538520, nssv3538500, nssv3715896, nssv3538509, nssv3538496, nssv3538521, nssv3715897, nssv3538505, nssv3538439, nssv3715913, nssv3538466, nssv3538448, nssv3538485, nssv3538477, nssv3538510, nssv3538461, nssv3538527, nssv3715889, nssv3715904, nssv3538513, nssv3538508, nssv3538493, nssv3538490, nssv3538484, nssv3538479, nssv3538464, nssv3538538, nssv3538432, nssv3538499, nssv3538502, nssv3538454, nssv3715892, nssv3538449, nssv3538468, nssv3538488, nssv3715900, nssv3538514, nssv3538519, nssv3538492, nssv3538523, nssv3538486, nssv3538462, nssv3538511, nssv3538480, nssv3538438, nssv3538506, nssv3538522, nssv3715895, nssv3538535, nssv3538528, nssv3538497, nssv3715899, nssv3538495, nssv3715920, nssv3538443, nssv3538533, nssv3538452, nssv3715903, nssv3715890, nssv3538440, nssv3538450, nssv3538476, nssv3538503, nssv3538507, nssv3538469, nssv3715909, nssv3715918, nssv3538534, nssv3538433, nssv3715912, nssv3715905, nssv3538531, nssv3715915, nssv3538456, nssv3715891, nssv3538444, nssv3538467, nssv3538457, nssv3538504, nssv3538465, nssv3715916, nssv3715906, nssv3715902, nssv3538447, nssv3715921, nssv3538459, nssv3538526, nssv3538471, nssv3538436, nssv3538474, nssv3715910, nssv3538463, nssv3538529, nssv3538487, nssv3538460

Samples

Known Genes

CHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3

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	108
Observed Loss	32
Observed Complex	0
Frequency	n/a