A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267744



Internal ID22204487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38912999..38924273hg38UCSC Ensembl
Outerchr21:40284923..40296197hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249057
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267744
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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