A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv423n54



Internal ID20133847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103612150..103624903hg38UCSC Ensembl
chr1:104154772..104167525hg19UCSC Ensembl
chr1:103956295..103969048hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3812754
hg1912754
hg1812754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547073, nsv547090, nsv547094, nsv547072
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv423n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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