A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946714



Internal ID22722209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114435621..114435691hg38UCSC Ensembl
chr12:114873426..114873496hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368387
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946714
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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