A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263656



Internal ID22291756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2414609..2427118hg38UCSC Ensembl
Outerchr19:2414607..2427116hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381321
hg191321
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234562
Supporting Variants
SamplesNA19240
Known GenesTIMM13, TMPRSS9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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