A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237862



Internal ID22373990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33249565..33251724hg38UCSC Ensembl
Outerchr19:33740471..33742630hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264162, nssv14264164, nssv14264159, nssv14264158, nssv14264163, nssv14264166, nssv14264165, nssv14264160, nssv14264161
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237862
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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