A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274566



Internal ID22314216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150233871..150255955hg38UCSC Ensembl
Outerchr4:151155023..151177107hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg385298
hg195298
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226260
Supporting Variants
SamplesNA19240
Known GenesDCLK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274566
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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