A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932300



Internal ID22707596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130841814..130851471hg38UCSC Ensembl
chr12:131326359..131336016hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg389658
hg199658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365808
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932300
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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