A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557209



Internal ID16344618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6134450..6179942hg38UCSC Ensembl
Innerchr12:6243616..6289108hg19UCSC Ensembl
Innerchr12:6113877..6159369hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3845493
hg1945493
hg1845493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2315n54
Supporting Variantsnssv787093, nssv787094
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557209
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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