A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241978



Internal ID22375124
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264235, nssv14264234, nssv14264236, nssv14264238, nssv14264237, nssv14264233, nssv14264232
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesCYP2A13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241978
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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