A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597761



Internal ID16385170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:30317380..30434741hg38UCSC Ensembl
Innerchr5:30317487..30434848hg19UCSC Ensembl
Innerchr5:30353244..30470605hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38117362
hg19117362
hg18117362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028854
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597761
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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