A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598317



Internal ID16385726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61331130..61333772hg38UCSC Ensembl
Innerchr5:60626957..60629599hg19UCSC Ensembl
Innerchr5:60662714..60665356hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382643
hg192643
hg182643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9812n54
Supporting Variantsnssv1034197, nssv1034198
Samples
Known GenesZSWIM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598317
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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