A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703929



Internal ID15440581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43185975..43194322hg38UCSC Ensembl
Innerchr2:43413114..43421461hg19UCSC Ensembl
Innerchr2:43266618..43274965hg18UCSC Ensembl
Innerchr2:43324765..43333112hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388348
hg198348
hg188348
hg178348
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527482
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703929
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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