A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218367



Internal ID22363733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14840003..14861134hg38UCSC Ensembl
Outerchr18:14840002..14861133hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3821132
hg1921132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262295, nssv14262301, nssv14262298, nssv14262296, nssv14262297, nssv14262299, nssv14262300
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesANKRD30B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218367
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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