A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559101



Internal ID15999824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59770627..59808437hg38UCSC Ensembl
Innerchr12:60164408..60202218hg19UCSC Ensembl
Innerchr12:58450675..58488485hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3837811
hg1937811
hg1837811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796726
Samples
Known GenesSLC16A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559101
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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