A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268954



Internal ID22135978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240110054..240188971hg38UCSC Ensembl
Outerchr1:240273354..240352271hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384382
hg194382
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222435
Supporting Variants
SamplesHG00513
Known GenesFMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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