A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv610n54



Internal ID22768505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164023239..164238306hg38UCSC Ensembl
chr1:163992476..164207543hg19UCSC Ensembl
chr1:162259100..162474167hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38215068
hg19215068
hg18215068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548088, nsv548087
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv610n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer