A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267924



Internal ID22146470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45959109..45982708hg38UCSC Ensembl
Outerchr21:47379023..47402622hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823600
hg1923600
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213930
Supporting Variants
SamplesHG00514
Known GenesCOL6A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267924
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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