A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699529



Internal ID15089495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48198962..48208219hg38UCSC Ensembl
Innerchr19:48702219..48711476hg19UCSC Ensembl
Innerchr19:53394031..53403288hg18UCSC Ensembl
Innerchr19:53394031..53403288hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg389258
hg199258
hg189258
hg179258
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523716
Supporting Variants
Samples
Known GenesCARD8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699529
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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