A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259662



Internal ID22309210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:83225654..83247745hg38UCSC Ensembl
Outerchr15:83894406..83916497hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg383963
hg193963
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238945
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259662
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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