A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052904



Internal ID18795435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133298340..133769367hg38UCSC Ensembl
Innerchr10:135111844..135506692hg19UCSC Ensembl
Innerchr10:134961834..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38471028
hg19394849
hg18394849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520705
Samples
Known GenesCALY, CYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, ECHS1, FRG2B, FUOM, LOC100653046, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052904
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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