A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608032



Internal ID16395441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102553239..102654790hg38UCSC Ensembl
Innerchr7:102193686..102295237hg19UCSC Ensembl
Innerchr7:101980785..102082473hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38101552
hg19101552
hg18101689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11543n54
Supporting Variantsnssv1092034
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)nsv608032
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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