A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550241



Internal ID15990964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27280592..27736842hg38UCSC Ensembl
Innerchr10:27569521..28025771hg19UCSC Ensembl
Innerchr10:27609527..28065777hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38456251
hg19456251
hg18456251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv745489
Samples
Known GenesMKX, PTCHD3, RAB18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550241
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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