A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663935



Internal ID15053901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201109960..201112815hg38UCSC Ensembl
Innerchr1:201079088..201081943hg19UCSC Ensembl
Innerchr1:199345711..199348566hg18UCSC Ensembl
Innerchr1:197810745..197813600hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382856
hg192856
hg182856
hg172856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515571
Supporting Variants
Samples
Known GenesCACNA1S
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663935
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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