A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522948



Internal ID15103555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4856417..4859624hg38UCSC Ensembl
Innerchr20:4837063..4840270hg19UCSC Ensembl
Innerchr20:4785063..4788270hg18UCSC Ensembl
Innerchr20:4785063..4788270hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383208
hg193208
hg183208
hg173208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698615
Samples
Known GenesSLC23A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522948
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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