A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902103



Internal ID22677257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52538348..52538407hg38UCSC Ensembl
chr3:52572364..52572423hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426928
Samples
Known GenesSMIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902103
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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