A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228537



Internal ID22370696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:64867993..64917694hg38UCSC Ensembl
Outerchr16:64901896..64951597hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3849702
hg1949702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260253, nssv14260252
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228537
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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