A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682599



Internal ID15072565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13325015..13328316hg38UCSC Ensembl
Innerchr19:13435829..13439130hg19UCSC Ensembl
Innerchr19:13296829..13300130hg18UCSC Ensembl
Innerchr19:13296829..13300130hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg383302
hg193302
hg183302
hg173302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520548
Supporting Variants
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682599
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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