A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606042



Internal ID16046765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7387904..7836835hg38UCSC Ensembl
Innerchr7:7427535..7876466hg19UCSC Ensembl
Innerchr7:7394060..7842991hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38448932
hg19448932
hg18448932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1078880
Samples
Known GenesCOL28A1, MIOS, RPA3, RPA3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606042
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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