A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699716



Internal ID15089682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50707844..50778974hg38UCSC Ensembl
Innerchr20:49324381..49395511hg19UCSC Ensembl
Innerchr20:48757788..48828918hg18UCSC Ensembl
Innerchr20:48757788..48828918hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3871131
hg1971131
hg1871131
hg1771131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523874
Supporting Variants
Samples
Known GenesPARD6B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699716
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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