A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472047



Internal ID249768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16954471..17014532hg38UCSC Ensembl
chr5:16954580..17014641hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3860062
hg1960062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962126
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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