A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558749



Internal ID16346158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42786388..42881294hg38UCSC Ensembl
Innerchr12:43180190..43275097hg19UCSC Ensembl
Innerchr12:41466457..41561364hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3894907
hg1994908
hg1894908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv794336
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558749
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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