A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221532



Internal ID22365889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105741497..106767692hg38UCSC Ensembl
Outerchr14:106207834..107175935hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381026196
hg19968102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2802n152
Supporting Variantsnssv14258338, nssv14258339, nssv14258340
SamplesNA19239, HG00513, HG00514
Known GenesADAM6, KIAA0125, LINC00221, LINC00226
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221532
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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