A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228154



Internal ID22370428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:38855573..38955355hg38UCSC Ensembl
Outerchr18:36435537..36535319hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3899783
hg1999783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261720
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228154
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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