A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558148



Internal ID16345557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31915943hg38UCSC Ensembl
Innerchr12:32004170..32068877hg19UCSC Ensembl
Innerchr12:31895437..31960144hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864708
hg1964708
hg1864708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483n54
Supporting Variantsnssv1176297, nssv791817, nssv791816, nssv791815, nssv791814
SamplesNINDS_146
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558148
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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