A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697461



Internal ID15434113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210848445..210868248hg38UCSC Ensembl
Innerchr1:211021787..211041590hg19UCSC Ensembl
Innerchr1:209088410..209108213hg18UCSC Ensembl
Innerchr1:207410182..207429985hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3819804
hg1919804
hg1819804
hg1719804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520509
Supporting Variants
Samples
Known GenesKCNH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697461
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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