A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694144



Internal ID15084110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233669426..233677326hg38UCSC Ensembl
Innerchr1:233805172..233813072hg19UCSC Ensembl
Innerchr1:231871795..231879695hg18UCSC Ensembl
Innerchr1:230111907..230119807hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg387901
hg197901
hg187901
hg177901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522207
Supporting Variants
Samples
Known GenesKCNK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694144
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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