A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559232



Internal ID16346641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69956689..70007369hg38UCSC Ensembl
Innerchr12:70350469..70401149hg19UCSC Ensembl
Innerchr12:68636736..68687416hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3850681
hg1950681
hg1850681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176419
SamplesHGDP00866
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559232
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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