A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257350



Internal ID22118256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48667831..48677973hg38UCSC Ensembl
Outerchr13:49241967..49252109hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244487
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257350
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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