A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516882



Internal ID15097489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54854955..54923002hg38UCSC Ensembl
Innerchr12:55248739..55316786hg19UCSC Ensembl
Innerchr12:53535006..53603053hg18UCSC Ensembl
Innerchr12:53535006..53603053hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3868048
hg1968048
hg1868048
hg1768048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681327, nssv654665
Samples
Known GenesMUCL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516882
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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