A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464541



Internal ID242418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127542940..127543639hg38UCSC Ensembl
chr6:127864085..127864784hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969077
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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