A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275272



Internal ID22315193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:164325823..164331038hg38UCSC Ensembl
Outerchr5:163752829..163758044hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212415
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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