A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933345



Internal ID22708656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50881882..50882238hg38UCSC Ensembl
chr14:51348600..51348956hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377874
Samples
Known GenesABHD12B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933345
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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