A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696181



Internal ID15086147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38930211..38930752hg38UCSC Ensembl
Innerchr1:39395883..39396424hg19UCSC Ensembl
Innerchr1:39168470..39169011hg18UCSC Ensembl
Innerchr1:39064976..39065517hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38542
hg19542
hg18542
hg17542
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518731
Supporting Variants
Samples
Known GenesRHBDL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696181
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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