A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694726



Internal ID15431378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:72974052..72978029hg38UCSC Ensembl
Innerchr6:73683775..73687752hg19UCSC Ensembl
Innerchr6:73740496..73744473hg18UCSC Ensembl
Innerchr6:73740496..73744473hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383978
hg193978
hg183978
hg173978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521957
Supporting Variants
Samples
Known GenesKCNQ5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694726
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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