A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216322



Internal ID22362351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11859418..11867755hg38UCSC Ensembl
Outerchr18:11859417..11867754hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg388338
hg198338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262293, nssv14262294
SamplesNA19238, NA19240
Known GenesGNAL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216322
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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