A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608008



Internal ID16048731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102487446..102646638hg38UCSC Ensembl
Innerchr7:102127893..102287085hg19UCSC Ensembl
Innerchr7:101914898..102074321hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38159193
hg19159193
hg18159424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11541n54
Supporting Variantsnssv1092004, nssv1092003
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)nsv608008
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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