A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218524



Internal ID22363835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129797532..129868059hg38UCSC Ensembl
Outerchr12:130282077..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3870528
hg1970528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2077n152
Supporting Variantsnssv14255219, nssv14255218, nssv14255217
SamplesNA19238, HG00513, HG00514
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218524
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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