A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471594



Internal ID249326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74998261..75008261hg38UCSC Ensembl
chr6:75707977..75717977hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985587
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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