A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv434n54



Internal ID20133858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103624903..103671558hg38UCSC Ensembl
chr1:104167525..104214180hg19UCSC Ensembl
chr1:103969048..104015703hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3846656
hg1946656
hg1846656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547150, nsv547128, nsv547141, nsv547127, nsv547135, nsv547129, nsv547151, nsv547146, nsv547145, nsv547152, nsv547149
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)dgv434n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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