A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268676



Internal ID22274976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45972785..46001668hg38UCSC Ensembl
Outerchr21:47392699..47421582hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244311
Supporting Variants
SamplesNA19239
Known GenesCOL6A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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