A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608004



Internal ID16048727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102473462..102615025hg38UCSC Ensembl
Innerchr7:102113909..102255472hg19UCSC Ensembl
Innerchr7:101900914..102042692hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38141564
hg19141564
hg18141779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11541n54
Supporting Variantsnssv1091999
Samples
Known GenesPOLR2J, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608004
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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