A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232283



Internal ID22372464
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258172
SamplesNA19238
Known GenesSLC35F4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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