A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226260



Internal ID22365739
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6886n152
Supporting Variantsnssv14274563, nssv14274560, nssv14274566, nssv14274565, nssv14274564, nssv14274561, nssv14274562
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesDCLK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226260
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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