A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237462



Internal ID22373880
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261875, nssv14261879, nssv14261878, nssv14261876, nssv14261880, nssv14261877
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513
Known GenesDSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237462
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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