A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2483n54



Internal ID22770378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31848581..31921464hg38UCSC Ensembl
chr12:32001515..32074398hg19UCSC Ensembl
chr12:31892782..31965665hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3872884
hg1972884
hg1872884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558150, nsv558144, nsv558145, nsv558148, nsv558143, nsv558151, nsv558142, nsv558152, nsv558147
SamplesNINDS_146, NINDS_37, HGDP00274, HGDP01299, 1780862459_A, 1780862585_A, NINDS_81, 1780862573_A, NINDS_198, 1780854418_A, 1788485590_A, NINDS_259
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2483n54
Frequency
Sample Size17421
Observed Gain39
Observed Loss0
Observed Complex0
Frequencyn/a


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