A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472713



Internal ID250418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121461562..121895829hg38UCSC Ensembl
chr6:121782708..122216975hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38434268
hg19434268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987768
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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