A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517082

Internal ID

15444375

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:110798535..110845101	hg38	UCSC Ensembl
Inner	chr1:111341157..111387723	hg19	UCSC Ensembl
Inner	chr1:111142680..111189246	hg18	UCSC Ensembl
Inner	chr1:111053199..111099765	hg17	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	46567
hg19	46567
hg18	46567
hg17	46567

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv688302, nssv674450, nssv669488, nssv675397, nssv680029, nssv682161, nssv681546, nssv661484, nssv658242, nssv684087, nssv692507, nssv676974, nssv653759, nssv652041, nssv659586, nssv652646, nssv683550, nssv669991, nssv684988, nssv669084, nssv663114, nssv690594, nssv678386, nssv656767, nssv687340, nssv655379, nssv682012, nssv680182, nssv655053, nssv659814, nssv687950, nssv681709, nssv690429, nssv685787, nssv668892, nssv658924, nssv678027, nssv679263, nssv692305, nssv661553, nssv690543, nssv669208, nssv658116, nssv685594, nssv671864, nssv669952, nssv660532, nssv671738, nssv660616, nssv684777, nssv663874, nssv662181, nssv657151, nssv675662, nssv690669, nssv688099, nssv676535, nssv670219, nssv665790, nssv659461, nssv659517, nssv691006, nssv680899, nssv668523, nssv677049, nssv663435, nssv659322, nssv681365, nssv676135, nssv688806, nssv656225, nssv674503, nssv657335, nssv693561, nssv682619, nssv671485, nssv670525, nssv658402, nssv680869, nssv665832, nssv688819, nssv685083, nssv651734, nssv665352, nssv655875, nssv677998, nssv673105, nssv668839, nssv661130, nssv676916, nssv687625, nssv675534, nssv691096, nssv668653, nssv688319, nssv701118, nssv672559, nssv658960, nssv675715, nssv659236, nssv658200, nssv691361, nssv692640, nssv679819, nssv658006, nssv666710, nssv685833, nssv684384, nssv669896, nssv661437, nssv673328, nssv665721, nssv663457, nssv672411, nssv664346, nssv705563, nssv660264, nssv657972, nssv677166, nssv666607, nssv686152, nssv670794, nssv688628, nssv667611, nssv652852, nssv663597, nssv683037, nssv673134, nssv691595, nssv654031, nssv677888, nssv676167, nssv684124, nssv668036, nssv658909, nssv651924, nssv684074, nssv686345, nssv690491, nssv678960, nssv689997, nssv657015, nssv685935, nssv682688, nssv691932, nssv652359, nssv664516, nssv663019, nssv678159, nssv662372, nssv690382, nssv657406, nssv665831, nssv688490, nssv660366, nssv652389, nssv684898, nssv693157, nssv653810, nssv656298

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	12
Observed Loss	148
Observed Complex	0
Frequency	n/a