A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550042



Internal ID15990765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18394338..18705654hg38UCSC Ensembl
Innerchr10:18683267..18994583hg19UCSC Ensembl
Innerchr10:18723273..19034589hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38311317
hg19311317
hg18311317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv744149
Samples
Known GenesARL5B, CACNB2, NSUN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550042
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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