A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519603



Internal ID15100210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21373538..21431775hg38UCSC Ensembl
Innerchr12:21526472..21584709hg19UCSC Ensembl
Innerchr12:21417739..21475976hg18UCSC Ensembl
Innerchr12:21417739..21475976hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3858238
hg1958238
hg1858238
hg1758238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703997, nssv679690, nssv690934, nssv685577, nssv688305, nssv693871, nssv675430, nssv684207, nssv658295, nssv689717, nssv657859, nssv694851, nssv679557, nssv696927, nssv686273, nssv689968, nssv685063, nssv681212, nssv688022, nssv679352, nssv657040
Samples
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519603
Frequency
Sample Size2026
Observed Gain2
Observed Loss19
Observed Complex0
Frequencyn/a


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