A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598114



Internal ID16385523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50695727..50792483hg38UCSC Ensembl
Innerchr5:49991561..50088317hg19UCSC Ensembl
Innerchr5:50027318..50124074hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3896757
hg1996757
hg1896757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9774n54
Supporting Variantsnssv1030167
Samples
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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