A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213989



Internal ID22360769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:41126665..41207973hg38UCSC Ensembl
Outerchr14:41595870..41677176hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3881309
hg1981307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2597n152
Supporting Variantsnssv14257171, nssv14257170, nssv14257169
SamplesNA19238, HG00513, HG00514
Known GenesLOC644919
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213989
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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