A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937082



Internal ID22712445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841817..116841892hg38UCSC Ensembl
chr12:117279622..117279697hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368026
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937082
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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