A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249605



Internal ID22377320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40507378..40522625hg38UCSC Ensembl
Outerchr21:41879305..41894552hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268753, nssv14268754, nssv14268752
SamplesNA19239, HG00732, HG00733
Known GenesDSCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249605
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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