A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598927



Internal ID16386336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:89351949..89485051hg38UCSC Ensembl
Innerchr5:88647766..88780868hg19UCSC Ensembl
Innerchr5:88683522..88816624hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38133103
hg19133103
hg18133103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1036461
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598927
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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