A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261876



Internal ID22133688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31140938..31169970hg38UCSC Ensembl
Outerchr18:28720901..28749933hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237462
Supporting Variants
SamplesHG00513
Known GenesDSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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