A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600244



Internal ID16387653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165768554..165838839hg38UCSC Ensembl
Innerchr5:165195559..165265844hg19UCSC Ensembl
Innerchr5:165128137..165198422hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3870286
hg1970286
hg1870286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045247
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600244
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