A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053668



Internal ID19142887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133535722..133769367hg38UCSC Ensembl
Innerchr10:135349226..135506692hg19UCSC Ensembl
Innerchr10:135199216..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38233646
hg19157467
hg18157467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1007n100
Supporting Variantsnssv3706382, nssv3520685, nssv3506296, nssv3522029, nssv3520575, nssv3509489, nssv3518302, nssv3514238, nssv3503326
Samples
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SPRNP1, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053668
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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