A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557809



Internal ID15998532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27493793..27501613hg38UCSC Ensembl
Innerchr12:27646726..27654546hg19UCSC Ensembl
Innerchr12:27537993..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387821
hg197821
hg187821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2418n54
Supporting Variantsnssv789878
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557809
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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