A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048718



Internal ID18791249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133451264..133562190hg38UCSC Ensembl
Innerchr10:135264768..135375694hg19UCSC Ensembl
Innerchr10:135114758..135225684hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38110927
hg19110927
hg18110927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3518455, nssv3519285, nssv3510283, nssv3515874, nssv3520368, nssv3515722, nssv3509814, nssv3503671, nssv3519157
Samples
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048718
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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