A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263240



Internal ID22134146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1261847..1329387hg38UCSC Ensembl
Outerchr19:1261846..1329386hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381707
hg191707
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231092
Supporting Variants
SamplesHG00513
Known GenesC19orf24, CIRBP, CIRBP-AS1, EFNA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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