A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559563



Internal ID16346972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83623264..84057045hg38UCSC Ensembl
Innerchr12:84017043..84450824hg19UCSC Ensembl
Innerchr12:82541174..82974955hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38433782
hg19433782
hg18433782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2745n54
Supporting Variantsnssv799363
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559563
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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