A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3506011



Internal ID18804292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133576338..133769367hg38UCSC Ensembl
Innerchr10:135389842..135506692hg19UCSC Ensembl
Innerchr10:135239832..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38193030
hg19116851
hg18116851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038768
Supporting Variants
Samples
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3506011
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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