A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933320



Internal ID22708631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116719876..116720294hg38UCSC Ensembl
chr12:117157681..117158099hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354524
Samples
Known GenesC12orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933320
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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