A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244916



Internal ID22375994
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263673, nssv14263672, nssv14263671
SamplesNA19240, HG00513, HG00514
Known GenesSIPA1L3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244916
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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