A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249062



Internal ID22377165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37657516..37701718hg38UCSC Ensembl
Outerchr21:39029818..39074020hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268749, nssv14268748
SamplesNA19239, HG00731
Known GenesKCNJ6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249062
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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