A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559146



Internal ID16346555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60725485..60922010hg38UCSC Ensembl
Innerchr12:61119266..61315791hg19UCSC Ensembl
Innerchr12:59405533..59602058hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38196526
hg19196526
hg18196526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797462
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559146
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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