A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3636488



Internal ID18934769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189970419..190098983hg38UCSC Ensembl
Innerchr4:190891574..191020138hg19UCSC Ensembl
Innerchr4:191128568..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38128565
hg19128565
hg18125552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035126
Supporting Variants
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)nssv3636488
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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