A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483050



Internal ID260493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27042537..27369512hg38UCSC Ensembl
chr10:27331466..27658441hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38326976
hg19326976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033288
Samples
Known GenesACBD5, ANKRD26, LRRC37A6P, MASTL, YME1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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