A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519240



Internal ID8413515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33950598..34749311hg38UCSC Ensembl
Innerchr5:33950703..34749416hg19UCSC Ensembl
Innerchr5:33986460..34785173hg18UCSC Ensembl
Innerchr5:33986460..34785173hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38798714
hg19798714
hg18798714
hg17798714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696733
Samples
Known GenesAMACR, C1QTNF3, C1QTNF3-AMACR, RAI14, SLC45A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519240
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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