A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694970



Internal ID15431622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56348706..56362487hg38UCSC Ensembl
Innerchr20:54923762..54937543hg19UCSC Ensembl
Innerchr20:54357169..54370950hg18UCSC Ensembl
Innerchr20:54357169..54370950hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3813782
hg1913782
hg1813782
hg1713782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522197
Supporting Variants
Samples
Known GenesFAM210B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694970
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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