A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467976



Internal ID245784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138742675..138759105hg38UCSC Ensembl
chr6:139063812..139080242hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3816431
hg1916431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970841
Samples
Known GenesLOC100507462
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467976
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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