A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473101



Internal ID250796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113544082..113544215hg38UCSC Ensembl
chr6:113865284..113865417hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987599
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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