A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv424n54



Internal ID20133848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103612150..103679831hg38UCSC Ensembl
chr1:104154772..104222453hg19UCSC Ensembl
chr1:103956295..104023976hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3867682
hg1967682
hg1867682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547114, nsv547076, nsv547131, nsv547118, nsv547103, nsv547115
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv424n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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