A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940029



Internal ID22715432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70264312..70264367hg38UCSC Ensembl
chr12:70658092..70658147hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354724
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940029
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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