A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1072350



Internal ID15925536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118446987..118540100hg38UCSC Ensembl
Innerchr6:118768150..118861263hg19UCSC Ensembl
Innerchr6:118874843..118967956hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3893114
hg1993114
hg1893114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv604558
Supporting Variants
Samples
Known GenesBRD7P3, CEP85L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1072350
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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