A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551439



Internal ID16338848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68827241..68828278hg38UCSC Ensembl
Innerchr10:70586998..70588035hg19UCSC Ensembl
Innerchr10:70257004..70258041hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381038
hg191038
hg181038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1250n54
Supporting Variantsnssv749992, nssv749991
Samples
Known GenesSTOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551439
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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