A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217610



Internal ID22363213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21455498..21516390hg38UCSC Ensembl
Outerchr14:21923657..21984543hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860893
hg1960887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257769, nssv14257770, nssv14257773, nssv14257771, nssv14257775, nssv14257774, nssv14257772
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMETTL3, RAB2B, TOX4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217610
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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