A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275768



Internal ID22132111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32958119..32983065hg38UCSC Ensembl
Outerchr5:32958225..32983171hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221196
Supporting Variants
SamplesHG00513
Known GenesLOC340113
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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