A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267097



Internal ID22254928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41648694..41676925hg38UCSC Ensembl
Outerchr21:43068854..43097085hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249607
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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