A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559050



Internal ID15999773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59087714..61442753hg38UCSC Ensembl
Innerchr12:59481495..61836534hg19UCSC Ensembl
Innerchr12:57767762..60122801hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382355040
hg192355040
hg182355040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175727
SamplesHGDP00466
Known GenesSLC16A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559050
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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