A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263986



Internal ID22210928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1610099..1635386hg38UCSC Ensembl
Outerchr19:1610098..1635385hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235626
Supporting Variants
SamplesHG00732
Known GenesTCF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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