A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467834



Internal ID245643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125272144..125272260hg38UCSC Ensembl
chr6:125593290..125593406hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969284
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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