A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427909



Internal ID206796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178135374..178135483hg38UCSC Ensembl
chr1:178104509..178104618hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892956
Samples
Known GenesRASAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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