A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263980



Internal ID22202813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1261847..1284490hg38UCSC Ensembl
Outerchr19:1261846..1284489hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248910
Supporting Variants
SamplesHG00732
Known GenesC19orf24, CIRBP, CIRBP-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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