A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735436



Internal ID159102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139442441..139447841hg38UCSC Ensembl
chr5:138778130..138783530hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459867
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003748


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