A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701009



Internal ID15437661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77972142..77991700hg38UCSC Ensembl
Innerchr2:78199268..78218826hg19UCSC Ensembl
Innerchr2:78052776..78072334hg18UCSC Ensembl
Innerchr2:78110923..78130481hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3819559
hg1919559
hg1819559
hg1719559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524980
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701009
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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