A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263673



Internal ID22306257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38117267..38135148hg38UCSC Ensembl
Outerchr19:38607907..38625788hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244916
Supporting Variants
SamplesNA19240
Known GenesSIPA1L3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263673
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