A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040421



Internal ID18782952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133440449..133547593hg38UCSC Ensembl
Innerchr10:135253953..135361097hg19UCSC Ensembl
Innerchr10:135103943..135211087hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38107145
hg19107145
hg18107145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3515175, nssv3519976
Samples
Known GenesCYP2E1, SCART1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040421
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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