A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264236



Internal ID22268581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41094340..41108796hg38UCSC Ensembl
Outerchr19:41600245..41614701hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241978
Supporting Variants
SamplesNA19238
Known GenesCYP2A13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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