A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469741



Internal ID247517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11117321..11117488hg38UCSC Ensembl
chr6:11117554..11117721hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979006
Samples
Known GenesSMIM13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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