A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458041



Internal ID236072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118346975..118769006hg38UCSC Ensembl
chr6:118668138..119090169hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38422032
hg19422032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988107
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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