A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522947



Internal ID15450240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35845639..35972604hg38UCSC Ensembl
Innerchr20:34433561..34560526hg19UCSC Ensembl
Innerchr20:33896975..34023940hg18UCSC Ensembl
Innerchr20:33896975..34023940hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38126966
hg19126966
hg18126966
hg17126966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698614
Samples
Known GenesCNBD2, PHF20, SCAND1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522947
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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