A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560504



Internal ID16001227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911384..123912207hg38UCSC Ensembl
Innerchr12:124395931..124396754hg19UCSC Ensembl
Innerchr12:122961884..122962707hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38824
hg19824
hg18824
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803663, nssv803664
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560504
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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