A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276236



Internal ID22261016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80592579..80603407hg38UCSC Ensembl
Outerchr5:79888398..79899226hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213132
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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