A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712056



Internal ID16006012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:29772566..30282685hg38UCSC Ensembl
Innerchr1:30245413..30755532hg19UCSC Ensembl
Innerchr1:30018000..30528119hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38510120
hg19510120
hg18510120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545924
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712056
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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