A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv415n54



Internal ID20133839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103611144..103618643hg38UCSC Ensembl
chr1:104153766..104161265hg19UCSC Ensembl
chr1:103955289..103962788hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547071, nsv547070, nsv547053, nsv547041
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv415n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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