A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558835



Internal ID15999558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49881354..50039451hg38UCSC Ensembl
Innerchr12:50275137..50433234hg19UCSC Ensembl
Innerchr12:48561404..48719501hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38158098
hg19158098
hg18158098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795819
Samples
Known GenesAQP2, AQP5, AQP6, FAIM2, LOC283332, RACGAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558835
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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