A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521421



Internal ID15448714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43019934..43020480hg38UCSC Ensembl
Innerchr2:43247073..43247619hg19UCSC Ensembl
Innerchr2:43100577..43101123hg18UCSC Ensembl
Innerchr2:43158724..43159270hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38547
hg19547
hg18547
hg17547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698031
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521421
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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