A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416850



Internal ID22474720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183283499..183284033hg38UCSC Ensembl
chr3:183001287..183001821hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903706
Supporting Variants
Samples
Known GenesMCF2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416850
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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