A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246856



Internal ID22376550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16214290..16268985hg38UCSC Ensembl
Outerchr19:16325101..16379796hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38933
hg19933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263136, nssv14263137, nssv14263138, nssv14263134, nssv14263139, nssv14263135
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesAP1M1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246856
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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