A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559011



Internal ID15999734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56157465..56161238hg38UCSC Ensembl
Innerchr12:56551249..56555022hg19UCSC Ensembl
Innerchr12:54837516..54841289hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383774
hg193774
hg183774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2648n54
Supporting Variantsnssv796296, nssv796298, nssv796297
Samples
Known GenesMYL6, MYL6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559011
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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