A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608005



Internal ID16048728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102473640..102690366hg38UCSC Ensembl
Innerchr7:102114087..102330813hg19UCSC Ensembl
Innerchr7:101901092..102118049hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38216727
hg19216727
hg18216958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092000
Samples
Known GenesPOLR2J, POLR2J2, 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)nsv608005
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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