A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268695



Internal ID22146576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46112794..46243728hg38UCSC Ensembl
Outerchr21:47532708..47663642hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383828
hg193828
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236916
Supporting Variants
SamplesHG00514
Known GenesCOL6A2, FTCD, LSS, MCM3AP, MCM3AP-AS1, SPATC1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268695
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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