A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796299



Internal ID15743569
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 StatusS
Merged Variantsnsv559012
Supporting Variants
Samples
Known GenesMYL6, MYL6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796299
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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