A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598297



Internal ID16039020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60438177..60566626hg38UCSC Ensembl
Innerchr5:59734004..59862453hg19UCSC Ensembl
Innerchr5:59769761..59898210hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38128450
hg19128450
hg18128450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033496
Samples
Known GenesPART1, PDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598297
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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