A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213808



Internal ID22360633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240809179..240816482hg38UCSC Ensembl
Outerchr2:241748596..241755899hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266737, nssv14266735, nssv14266736
SamplesHG00512, NA19238, HG00731
Known GenesKIF1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213808
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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