A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049790



Internal ID19139009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133462756..133573736hg38UCSC Ensembl
Innerchr10:135276260..135387240hg19UCSC Ensembl
Innerchr10:135126250..135237230hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38110981
hg19110981
hg18110981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1006n100
Supporting Variantsnssv3512249
Samples
Known GenesCYP2E1, 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)nsv1049790
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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