A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241312



Internal ID22374932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45967981..45982708hg38UCSC Ensembl
Outerchr21:47387895..47402622hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267736
SamplesHG00731
Known GenesCOL6A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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