A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557814



Internal ID15998537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27504092hg38UCSC Ensembl
Innerchr12:27648411..27657025hg19UCSC Ensembl
Innerchr12:27539678..27548292hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg388615
hg198615
hg188615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2418n54
Supporting Variantsnssv789956, nssv789955, nssv789957, nssv789954
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557814
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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