A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560514



Internal ID16001237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911435..123915003hg38UCSC Ensembl
Innerchr12:124395982..124399550hg19UCSC Ensembl
Innerchr12:122961935..122965503hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383569
hg193569
hg183569
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803814, nssv803813
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560514
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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