A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558149



Internal ID16345558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31851236..31941167hg38UCSC Ensembl
Innerchr12:32004170..32094101hg19UCSC Ensembl
Innerchr12:31895437..31985368hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3889932
hg1989932
hg1889932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176298
Samples1780862176_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558149
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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