A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598113



Internal ID16385522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50693867..50792483hg38UCSC Ensembl
Innerchr5:49989701..50088317hg19UCSC Ensembl
Innerchr5:50025458..50124074hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3898617
hg1998617
hg1898617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9774n54
Supporting Variantsnssv1153926
SamplesHGDP00664
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598113
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer