A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608020



Internal ID16048743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102543450..102654790hg38UCSC Ensembl
Innerchr7:102183897..102295237hg19UCSC Ensembl
Innerchr7:101970902..102082473hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38111341
hg19111341
hg18111572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11543n54
Supporting Variantsnssv1092021
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608020
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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