A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558334



Internal ID16345743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34635973..34692240hg38UCSC Ensembl
Innerchr12:34788908..34845175hg19UCSC Ensembl
Innerchr12:34680175..34736442hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3856268
hg1956268
hg1856268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2520n54
Supporting Variantsnssv793116
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558334
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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