A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559047



Internal ID16346456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58244158..58245516hg38UCSC Ensembl
Innerchr12:58637941..58639299hg19UCSC Ensembl
Innerchr12:56924208..56925566hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796458
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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