A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17547166



Internal ID21871521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50439252..50444923hg38UCSC Ensembl
chr5:49735086..49740757hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg385672
hg195672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5999954
Supporting Variants
Samples
Known GenesEMB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17547166
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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