A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696836



Internal ID15086802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79630343..79897319hg38UCSC Ensembl
Innerchr18:77390343..77657319hg19UCSC Ensembl
Innerchr18:75491331..75758307hg18UCSC Ensembl
Innerchr18:75491331..75758307hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38266977
hg19266977
hg18266977
hg17266977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519406
Supporting Variants
Samples
Known GenesCTDP1, KCNG2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696836
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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