A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264808



Internal ID22235622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35103286..35111027hg38UCSC Ensembl
Outerchr19:35594190..35601931hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250001
Supporting Variants
SamplesHG00733
Known GenesHPN-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264808
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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