A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558706



Internal ID16346115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42623723..42633276hg38UCSC Ensembl
Innerchr12:43017525..43027078hg19UCSC Ensembl
Innerchr12:41303792..41313345hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389554
hg199554
hg189554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2596n54
Supporting Variantsnssv794066
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558706
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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