A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552694



Internal ID15993417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133444643..133538509hg38UCSC Ensembl
Innerchr10:135258147..135352013hg19UCSC Ensembl
Innerchr10:135108137..135202003hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3893867
hg1993867
hg1893867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n54
Supporting Variantsnssv1175030
SamplesHGDP01152
Known GenesCYP2E1, SCART1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552694
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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