A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263256



Internal ID22134158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37134024..37152142hg38UCSC Ensembl
Outerchr19:37624926..37643044hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240255
Supporting Variants
SamplesHG00513
Known GenesZNF585A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263256
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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