A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195277



Internal ID22345483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24347965..24382202hg38UCSC Ensembl
Outerchr5:24348074..24382311hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3834238
hg1934238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274360, nssv14274849, nssv14274852, nssv14274847, nssv14274850, nssv14274361, nssv14274848, nssv14274362, nssv14274851
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195277
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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