A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28n54



Internal ID20133452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1340697..1360023hg38UCSC Ensembl
chr1:1276077..1295403hg19UCSC Ensembl
chr1:1265940..1285266hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3819327
hg1919327
hg1819327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544980, nsv544981
Samples
Known GenesDVL1, MXRA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv28n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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