A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585413



Internal ID16372822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9759793..9905005hg38UCSC Ensembl
Innerchr20:9740441..9885653hg19UCSC Ensembl
Innerchr20:9688441..9833653hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38145213
hg19145213
hg18145213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv937958
Samples
Known GenesPAK7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585413
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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