A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258217



Internal ID22192123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20867177..20885302hg38UCSC Ensembl
Outerchr14:21335336..21353461hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230548
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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