A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275704



Internal ID22262674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9962886..9972346hg38UCSC Ensembl
Outerchr5:9962998..9972458hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229363
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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