A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557811



Internal ID15998534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27501613hg38UCSC Ensembl
Innerchr12:27648411..27654546hg19UCSC Ensembl
Innerchr12:27539678..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2419n54
Supporting Variantsnssv789887, nssv789883, nssv789885, nssv789886, nssv789884, nssv789882
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557811
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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