A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256776



Internal ID22200595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:74802890..74816002hg38UCSC Ensembl
Outerchr13:75377027..75390139hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381968
hg191968
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235276
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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