A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220808



Internal ID22365404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129083807..129101312hg38UCSC Ensembl
Outerchr12:129568352..129585857hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3817506
hg1917506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255801, nssv14255802
SamplesHG00512, HG00732
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220808
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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