A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263342



Internal ID22134204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55490338..55500157hg38UCSC Ensembl
Outerchr19:56001705..56011524hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389820
hg199820
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229396
Supporting Variants
SamplesHG00513
Known GenesSSC5D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263342
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