A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597609



Internal ID16385018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:25180864..25220038hg38UCSC Ensembl
Innerchr5:25180973..25220147hg19UCSC Ensembl
Innerchr5:25216730..25255904hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3839175
hg1939175
hg1839175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1027973
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597609
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