A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216553



Internal ID22362512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5206385..5216810hg38UCSC Ensembl
Outerchr18:5206384..5216809hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3810426
hg1910426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262027, nssv14262026, nssv14262025
SamplesNA19239, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216553
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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