A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2077n152



Internal ID22817780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129797532..129868059hg38UCSC Ensembl
chr12:130282077..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 Variants
Supporting Variantsnsv3218524, nsv3211163
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2077n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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