A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712147



Internal ID16006103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32079125..32088984hg38UCSC Ensembl
Innerchr1:32544726..32554585hg19UCSC Ensembl
Innerchr1:32317313..32327172hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg389860
hg199860
hg189860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545957
Supporting Variants
Samples
Known GenesTMEM39B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712147
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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