A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023795



Internal ID18766328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189916716..190098983hg38UCSC Ensembl
Innerchr4:190837871..191020138hg19UCSC Ensembl
Innerchr4:191074865..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38182268
hg19182268
hg18179255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5508n100
Supporting Variantsnssv3744571, nssv3744570
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)nsv1023795
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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