A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272437



Internal ID22137555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127282689..127297948hg38UCSC Ensembl
Outerchr3:127001532..127016791hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211499
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272437
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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