A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263359



Internal ID22185483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8330137..8351550hg38UCSC Ensembl
Outerchr19:8395021..8416434hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3821414
hg1921414
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216498
Supporting Variants
SamplesHG00731
Known GenesKANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263359
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