A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258976



Internal ID22316446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88443176..88459817hg38UCSC Ensembl
Outerchr14:88909520..88926161hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249540
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258976
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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