A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560503



Internal ID16001226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911384..123912147hg38UCSC Ensembl
Innerchr12:124395931..124396694hg19UCSC Ensembl
Innerchr12:122961884..122962647hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803662
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560503
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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