A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270419



Internal ID22136412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48917708..48922987hg38UCSC Ensembl
Outerchr3:48955141..48960420hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385280
hg195280
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208190
Supporting Variants
SamplesHG00513
Known GenesARIH2, ARIH2OS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270419
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