A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451554



Internal ID229734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131271919..131477783hg38UCSC Ensembl
chr3:130990763..131196627hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38205865
hg19205865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937732
Samples
Known GenesLOC339874, MRPL3, NEK11, NUDT16, NUDT16P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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