A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046277



Internal ID18788808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133438600..133559093hg38UCSC Ensembl
Innerchr10:135252104..135372597hg19UCSC Ensembl
Innerchr10:135102094..135222587hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38120494
hg19120494
hg18120494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3512783
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)nsv1046277
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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