A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803727



Internal ID15750997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911435..123911970hg38UCSC Ensembl
Innerchr12:124395982..124396517hg19UCSC Ensembl
Innerchr12:122961935..122962470hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38536
hg19536
hg18536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560508
Supporting Variants
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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