A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438161



Internal ID216730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182154263..182154392hg38UCSC Ensembl
chr1:182123398..182123527hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892759
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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