A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3519595



Internal ID18471190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133769367hg38UCSC Ensembl
Innerchr10:135242873..135506692hg19UCSC Ensembl
Innerchr10:135092863..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38339999
hg19263820
hg18263820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052268
Supporting Variants
Samples
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SCART1, 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)nssv3519595
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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