A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597876



Internal ID16385285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:39903303..39949990hg38UCSC Ensembl
Innerchr5:39903405..39950092hg19UCSC Ensembl
Innerchr5:39939162..39985849hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3846688
hg1946688
hg1846688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029134
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597876
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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