A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv398n54



Internal ID20133822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103572395..103623702hg38UCSC Ensembl
chr1:104115017..104166324hg19UCSC Ensembl
chr1:103916540..103967847hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3851308
hg1951308
hg1851308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546977, nsv546978
Samples
Known GenesAMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv398n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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