A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030134



Internal ID19119353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189959924..190098983hg38UCSC Ensembl
Innerchr4:190881079..191020138hg19UCSC Ensembl
Innerchr4:191118073..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38139060
hg19139060
hg18136047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5509n100
Supporting Variantsnssv3744578
Samples
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG1, FRG2, LOC100288255, LOC100653046, LOC283788
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030134
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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