A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275308



Internal ID22298662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3631387..3668750hg38UCSC Ensembl
Outerchr5:3631501..3668864hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223161
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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