A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559417



Internal ID16346826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74464177..74537569hg38UCSC Ensembl
Innerchr12:74857957..74931349hg19UCSC Ensembl
Innerchr12:73144224..73217616hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3873393
hg1973393
hg1873393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2720n54
Supporting Variantsnssv798861
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559417
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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