A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879072



Internal ID22654039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35620653..35621920hg38UCSC Ensembl
chr1:36086254..36087521hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370150
Samples
Known GenesPSMB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879072
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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