A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275191



Internal ID22189389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1642182..1646827hg38UCSC Ensembl
Outerchr5:1642297..1646942hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228238
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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