A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3509983



Internal ID18461578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133418490..133769367hg38UCSC Ensembl
Innerchr10:135231994..135506692hg19UCSC Ensembl
Innerchr10:135081984..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38350878
hg19274699
hg18274699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043464
Supporting Variants
Samples
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, MTG1, SCART1, SPRN, 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)nssv3509983
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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