A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655305



Internal ID15391957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122922681..122994524hg38UCSC Ensembl
Innerchr2:123680257..123752100hg19UCSC Ensembl
Innerchr2:123396727..123468570hg18UCSC Ensembl
Innerchr2:123396487..123468330hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3871844
hg1971844
hg1871844
hg1771844
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517668
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655305
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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