A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272685



Internal ID22265595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133899519..133904945hg38UCSC Ensembl
Outerchr5:133235210..133240636hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385427
hg195427
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204950
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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