A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606046



Internal ID16393455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7874188..7930929hg38UCSC Ensembl
Innerchr7:7913819..7970560hg19UCSC Ensembl
Innerchr7:7880344..7937085hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3856742
hg1956742
hg1856742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155152
SamplesHGDP01177
Known GenesRPA3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606046
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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