A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272192



Internal ID22266173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:87560534..87577932hg38UCSC Ensembl
Outerchr3:87609684..87627082hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214446
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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