A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559012



Internal ID15999735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56157465..56161576hg38UCSC Ensembl
Innerchr12:56551249..56555360hg19UCSC Ensembl
Innerchr12:54837516..54841627hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384112
hg194112
hg184112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2648n54
Supporting Variantsnssv796300, nssv796299
Samples
Known GenesMYL6, MYL6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559012
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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