A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550242



Internal ID16337651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27288639..27416926hg38UCSC Ensembl
Innerchr10:27577568..27705855hg19UCSC Ensembl
Innerchr10:27617574..27745861hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38128288
hg19128288
hg18128288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1006n54
Supporting Variantsnssv745490
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550242
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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