A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266737



Internal ID22259634
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213808
Supporting Variants
SamplesNA19238
Known GenesKIF1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266737
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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