A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1092000



Internal ID15598500
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 StatusS
Merged Variantsnsv608005
Supporting Variants
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)nssv1092000
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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