A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261925



Internal ID22145601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49201696..49204331hg38UCSC Ensembl
Outerchr18:46728066..46730701hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382841
hg192841
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248224
Supporting Variants
SamplesHG00514
Known GenesDYM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261925
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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