A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275672



Internal ID22277756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6855282..6876118hg38UCSC Ensembl
Outerchr5:6855395..6876231hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213369
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275672
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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