A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937278



Internal ID22712643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122225086..122236512hg38UCSC Ensembl
chr12:122709633..122721059hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3811427
hg1911427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355811
Samples
Known GenesDIABLO, LOC101593348, VPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937278
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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