A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559015



Internal ID15999738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56157696..56161238hg38UCSC Ensembl
Innerchr12:56551480..56555022hg19UCSC Ensembl
Innerchr12:54837747..54841289hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383543
hg193543
hg183543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2648n54
Supporting Variantsnssv796303
Samples
Known GenesMYL6, MYL6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559015
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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