A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558152



Internal ID16345561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31854172..31921464hg38UCSC Ensembl
Innerchr12:32007106..32074398hg19UCSC Ensembl
Innerchr12:31898373..31965665hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3867293
hg1967293
hg1867293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483n54
Supporting Variantsnssv791830, nssv791829
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558152
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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