A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211674



Internal ID22359155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45208619..45260381hg38UCSC Ensembl
Outerchr18:42788584..42840346hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3851763
hg1951763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262126
SamplesNA19240
Known GenesSLC14A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211674
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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