A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517143

Internal ID

15097750

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:54714333..54866553	hg38	UCSC Ensembl
Inner	chr19:55225835..55378008	hg19	UCSC Ensembl
Inner	chr19:59917647..60069820	hg18	UCSC Ensembl
Inner	chr19:59917647..60069820	hg17	UCSC Ensembl

Cytoband

19q13.42

Allele length

Assembly	Allele length
hg38	152221
hg19	152174
hg18	152174
hg17	152174

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv671939, nssv691671, nssv655505, nssv688591, nssv680858, nssv660289, nssv675468, nssv672283, nssv680912, nssv688839, nssv682731, nssv662492, nssv690325, nssv651845, nssv669378, nssv675602, nssv670239, nssv687107, nssv674905, nssv681971, nssv673507, nssv686161, nssv683450, nssv681121, nssv689457, nssv687069, nssv675793, nssv685457, nssv669671, nssv659986, nssv692148, nssv692673, nssv678792, nssv693435, nssv688139, nssv662146, nssv655448, nssv685844, nssv680772, nssv674720, nssv666458, nssv660958, nssv660591, nssv652899, nssv686952, nssv654051, nssv688188, nssv674805, nssv653860, nssv676468, nssv658284, nssv663731, nssv660453, nssv680744, nssv658455, nssv690833, nssv675171, nssv673109, nssv687694, nssv666153, nssv688996, nssv683051, nssv673537, nssv661168, nssv682983, nssv668942, nssv673027, nssv658718, nssv656231, nssv657741, nssv684995, nssv678242, nssv686872, nssv653901, nssv684316, nssv659820, nssv692378, nssv676660, nssv654933, nssv658125, nssv672677, nssv692515, nssv692544, nssv686384, nssv687724, nssv658431, nssv684528, nssv674342, nssv671295, nssv671228, nssv667401, nssv667467, nssv696232, nssv680884, nssv672706, nssv687937, nssv674606, nssv660333, nssv688884, nssv665801, nssv681282, nssv659452, nssv692314, nssv671967, nssv693167, nssv681766, nssv656459, nssv678572, nssv678072, nssv692059, nssv680170, nssv653954, nssv669868, nssv669012, nssv666128, nssv685814, nssv662697, nssv663890, nssv692001, nssv682943, nssv669452, nssv656141, nssv666101, nssv687327, nssv670961, nssv664898, nssv692992, nssv663398, nssv677656, nssv677275, nssv664851, nssv675198, nssv667899, nssv665824, nssv652769, nssv673788, nssv659853, nssv661607

Samples

Known Genes

KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534

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	23
Observed Loss	115
Observed Complex	0
Frequency	n/a