A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694547



Internal ID15084513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48254351..48257085hg38UCSC Ensembl
Innerchr19:48757608..48760342hg19UCSC Ensembl
Innerchr19:53449420..53452154hg18UCSC Ensembl
Innerchr19:53449420..53452154hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382735
hg192735
hg182735
hg172735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517364
Supporting Variants
Samples
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694547
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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