A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473495



Internal ID251182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99293940..99294068hg38UCSC Ensembl
chr6:99741816..99741944hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986524
Samples
Known GenesFAXC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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