A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700252



Internal ID15090218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100267299..100279242hg38UCSC Ensembl
Innerchr1:100732855..100744798hg19UCSC Ensembl
Innerchr1:100505443..100517386hg18UCSC Ensembl
Innerchr1:100444876..100456819hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3811944
hg1911944
hg1811944
hg1711944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524345
Supporting Variants
Samples
Known GenesRTCA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700252
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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