A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699846



Internal ID15089812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13320751..13330929hg38UCSC Ensembl
Innerchr19:13431565..13441743hg19UCSC Ensembl
Innerchr19:13292565..13302743hg18UCSC Ensembl
Innerchr19:13292565..13302743hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg3810179
hg1910179
hg1810179
hg1710179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523990
Supporting Variants
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699846
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer