A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457100



Internal ID235155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55074457..55074556hg38UCSC Ensembl
chr6:54939255..54939354hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985956
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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