A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598109



Internal ID16385518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50692186..50762209hg38UCSC Ensembl
Innerchr5:49988020..50058043hg19UCSC Ensembl
Innerchr5:50023777..50093800hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3870024
hg1970024
hg1870024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9773n54
Supporting Variantsnssv1153924
SamplesNINDS_142
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598109
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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