A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257773



Internal ID22233311
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217610
Supporting Variants
SamplesHG00733
Known GenesMETTL3, RAB2B, TOX4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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