A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597762



Internal ID16385171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:30407579..30500157hg38UCSC Ensembl
Innerchr5:30407686..30500264hg19UCSC Ensembl
Innerchr5:30443443..30536021hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3892579
hg1992579
hg1892579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153313
SamplesHGDP00926
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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