A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv516973

Internal ID

15097580

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:42698618..43362671	hg38	UCSC Ensembl
Inner	chr19:43202770..43866823	hg19	UCSC Ensembl
Inner	chr19:47894610..48558663	hg18	UCSC Ensembl
Inner	chr19:47894610..48558663	hg17	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	664054
hg19	664054
hg18	664054
hg17	664054

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv686928, nssv684645, nssv684024, nssv690604, nssv684356, nssv657718, nssv662469, nssv692731, nssv685441, nssv674589, nssv681305, nssv680394, nssv673826, nssv667466, nssv660076, nssv692079, nssv683859, nssv688485, nssv657045, nssv688703, nssv675467, nssv651730, nssv673871, nssv652174, nssv686136, nssv691308, nssv685926, nssv681281, nssv666625, nssv690851, nssv665748, nssv678711, nssv676485, nssv666193, nssv678346, nssv676532, nssv665360, nssv656652, nssv661745, nssv689337, nssv662683, nssv686355, nssv657239, nssv705054, nssv689671, nssv696061, nssv692849, nssv682436, nssv679588, nssv661942, nssv687193, nssv653000, nssv684619, nssv653780, nssv680266, nssv671544, nssv662201, nssv665269, nssv659610, nssv654038, nssv667844, nssv691939, nssv689265, nssv662763, nssv659632, nssv666495, nssv663262, nssv689264, nssv687243, nssv663889, nssv658576, nssv683781, nssv692873, nssv687974, nssv667174, nssv658283, nssv688576, nssv679427, nssv662323, nssv652469, nssv681393, nssv680240, nssv658621, nssv692468, nssv652396, nssv691695, nssv688159, nssv670753, nssv667123, nssv659035, nssv654589, nssv678866, nssv664284, nssv672225, nssv679337, nssv654498, nssv683647, nssv655881, nssv653337, nssv693285, nssv679921, nssv687262, nssv686447, nssv675637, nssv660561, nssv669686, nssv684572, nssv692610, nssv658170, nssv652216, nssv655282, nssv693102, nssv692207, nssv681193, nssv669886, nssv667770, nssv673399, nssv669431, nssv655993, nssv655504, nssv686929, nssv680911, nssv652838, nssv684401, nssv681253, nssv674492, nssv656334, nssv686088, nssv676379, nssv677092, nssv658914, nssv657886, nssv663242, nssv688337, nssv687960, nssv695103, nssv692672, nssv659746, nssv686262, nssv689507, nssv666457, nssv684051, nssv689870, nssv657773, nssv653171, nssv658577, nssv660409, nssv668921, nssv663397, nssv656458, nssv663302, nssv662491, nssv688767, nssv692147, nssv672419, nssv676324, nssv660196, nssv667897, nssv690072, nssv671150, nssv657184, nssv651743, nssv681120, nssv665519, nssv698971, nssv662601, nssv679198, nssv656634, nssv672590, nssv699170, nssv665065, nssv684315, nssv683281, nssv668451, nssv681716, nssv665996, nssv660785, nssv674458, nssv673183, nssv686397, nssv679381, nssv657917, nssv690042, nssv653538, nssv653257, nssv657763, nssv662927, nssv659577, nssv687813, nssv668205, nssv672624, nssv681626, nssv666874, nssv679997, nssv653027, nssv701750, nssv655906, nssv690345, nssv671321, nssv665728, nssv675110, nssv689731, nssv675987, nssv672213, nssv662964, nssv655402, nssv670837, nssv667444, nssv678620, nssv669773, nssv665778, nssv682175, nssv663441, nssv691670, nssv676988, nssv673618, nssv672376, nssv668206, nssv683893, nssv681119, nssv664708, nssv663361, nssv684802, nssv680512, nssv662643

Samples

Known Genes

CD177, LOC100289650, LOC284344, PRG1, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9

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	28
Observed Loss	197
Observed Complex	0
Frequency	n/a