A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696372



Internal ID15086338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79440845..79491061hg38UCSC Ensembl
Innerchr18:77200845..77251061hg19UCSC Ensembl
Innerchr18:75301833..75352049hg18UCSC Ensembl
Innerchr18:75301833..75352049hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3850217
hg1950217
hg1850217
hg1750217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518913
Supporting Variants
Samples
Known GenesNFATC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696372
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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