A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525967



Internal ID15106574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13212945..13624528hg38UCSC Ensembl
Innerchr19:13323759..13735342hg19UCSC Ensembl
Innerchr19:13184759..13596342hg18UCSC Ensembl
Innerchr19:13184759..13596342hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38411584
hg19411584
hg18411584
hg17411584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702181
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525967
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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