A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469543



Internal ID247326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143549301..143549398hg38UCSC Ensembl
chr4:144470454..144470551hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956484
Samples
Known GenesSMARCA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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