A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701853



Internal ID15091819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79395184..79961125hg38UCSC Ensembl
Innerchr18:77155184..77721125hg19UCSC Ensembl
Innerchr18:75256172..75822113hg18UCSC Ensembl
Innerchr18:75256172..75822113hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38565942
hg19565942
hg18565942
hg17565942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525694
Supporting Variants
Samples
Known GenesCTDP1, KCNG2, NFATC1, PQLC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701853
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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