A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681801



Internal ID15418453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56485291..56527344hg38UCSC Ensembl
Innerchr2:56712426..56754479hg19UCSC Ensembl
Innerchr2:56565930..56607983hg18UCSC Ensembl
Innerchr2:56624077..56666130hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3842054
hg1942054
hg1842054
hg1742054
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517645
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681801
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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