A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557659



Internal ID16345068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17751255..17790673hg38UCSC Ensembl
Innerchr12:17904189..17943607hg19UCSC Ensembl
Innerchr12:17795456..17834874hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3839419
hg1939419
hg1839419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176251
Samples1780854341_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557659
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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