A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1058423



Internal ID15564923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44224183..44286028hg38UCSC Ensembl
Innerchr6:44191920..44253765hg19UCSC Ensembl
Innerchr6:44299898..44361743hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3861846
hg1961846
hg1861846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv603003
Supporting Variants
Samples
Known GenesHSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2, TCTE1, TMEM151B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1058423
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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