A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263661



Internal ID22120286
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236781
Supporting Variants
SamplesHG00512
Known GenesTMEM161A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263661
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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