A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463742



Internal ID241633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2076005..2076103hg38UCSC Ensembl
chr5:2076119..2076217hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960869
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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