A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677255



Internal ID15067221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56678313..56737553hg38UCSC Ensembl
Innerchr1:57143986..57203226hg19UCSC Ensembl
Innerchr1:56916574..56975814hg18UCSC Ensembl
Innerchr1:56856007..56915247hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3859241
hg1959241
hg1859241
hg1759241
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520726
Supporting Variants
Samples
Known GenesC1orf168, PRKAA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv677255
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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