A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597872



Internal ID16385281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:39624978..39637783hg38UCSC Ensembl
Innerchr5:39625080..39637885hg19UCSC Ensembl
Innerchr5:39660837..39673642hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3812806
hg1912806
hg1812806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153343
SamplesHGDP01418
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597872
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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