A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699482



Internal ID15089448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11230959..11248123hg38UCSC Ensembl
Innerchr19:11341635..11358799hg19UCSC Ensembl
Innerchr19:11202635..11219799hg18UCSC Ensembl
Innerchr19:11202635..11219799hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3817165
hg1917165
hg1817165
hg1717165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523678
Supporting Variants
Samples
Known GenesC19orf80, DOCK6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699482
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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