A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236781



Internal ID22373689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19115643..19119651hg38UCSC Ensembl
Outerchr19:19226452..19230460hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263662, nssv14263664, nssv14263661, nssv14263663
SamplesHG00512, NA19240, HG00733, HG00513
Known GenesTMEM161A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236781
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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