A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030311



Internal ID19119530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189982134..190098983hg38UCSC Ensembl
Innerchr4:190903289..191020138hg19UCSC Ensembl
Innerchr4:191140283..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38116850
hg19116850
hg18113837
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3636491, nssv3636492, nssv3744579, nssv3636490, nssv3636493
Samples
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG2, LOC100288255, LOC100653046
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030311
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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