A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433048



Internal ID211774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170883957..170884102hg38UCSC Ensembl
chr1:170853098..170853243hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892195
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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