A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468972



Internal ID246764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63589823..63591236hg38UCSC Ensembl
chr6:64299728..64301141hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986048
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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