A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1078880



Internal ID15585380
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 StatusS
Merged Variantsnsv606042
Supporting Variants
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)nssv1078880
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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