A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141365



Internal ID340561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:189977381..190093000hg38UCSC Ensembl
chr4:190898536..191014155hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38115620
hg19115620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960616
Samples
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, FRG2, LOC100288255
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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