A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558332



Internal ID16345741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34625780..34696308hg38UCSC Ensembl
Innerchr12:34778715..34849243hg19UCSC Ensembl
Innerchr12:34669982..34740510hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3870529
hg1970529
hg1870529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2520n54
Supporting Variantsnssv793114
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558332
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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