A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272092



Internal ID22197898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194409867..194432440hg38UCSC Ensembl
Outerchr3:194130596..194153169hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212924
Supporting Variants
SamplesHG00732
Known GenesATP13A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272092
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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