A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960616



Internal ID41049
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 StatusS
Merged Variantsnsv6141365
Supporting Variants
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)nssv16960616
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000471


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