A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034512



Internal ID18777046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189870388..190098983hg38UCSC Ensembl
Innerchr4:190791543..191020138hg19UCSC Ensembl
Innerchr4:191028537..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38228596
hg19228596
hg18225583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5508n100
Supporting Variantsnssv3744563, nssv3744562, nssv3744561, nssv3744560
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)nsv1034512
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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