A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258172



Internal ID22264283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:57589933..57595766hg38UCSC Ensembl
Outerchr14:58056651..58062484hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg384610
hg194610
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232283
Supporting Variants
SamplesNA19238
Known GenesSLC35F4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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