A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608009



Internal ID16048732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102487446..102667228hg38UCSC Ensembl
Innerchr7:102127893..102307675hg19UCSC Ensembl
Innerchr7:101914898..102094911hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38179783
hg19179783
hg18180014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11542n54
Supporting Variantsnssv1092005
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)nsv608009
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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