A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518313



Internal ID15445606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41605767..41609596hg38UCSC Ensembl
Innerchr1:42071438..42075267hg19UCSC Ensembl
Innerchr1:41844025..41847854hg18UCSC Ensembl
Innerchr1:41740531..41744360hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383830
hg193830
hg183830
hg173830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695744
Samples
Known GenesHIVEP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518313
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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