A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276924



Internal ID22275609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158308825..158313597hg38UCSC Ensembl
Outerchr5:157735833..157740605hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223682
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276924
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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