A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267656



Internal ID22274238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32825391..32846763hg38UCSC Ensembl
Outerchr21:34197701..34219073hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382032
hg192032
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240333
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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