A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046465



Internal ID18788996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133557363..133769367hg38UCSC Ensembl
Innerchr10:135370867..135506692hg19UCSC Ensembl
Innerchr10:135220857..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38212005
hg19135826
hg18135826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1007n100
Supporting Variantsnssv3520214, nssv3511686, nssv3511081, nssv3515362
Samples
Known GenesDUX2, 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)nsv1046465
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer