A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194846



Internal ID22345109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82759602..82767130hg38UCSC Ensembl
Outerchr5:82055421..82062949hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg387529
hg197529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274934, nssv14274933
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194846
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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