A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv392n54



Internal ID20133816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103555093..103763694hg38UCSC Ensembl
chr1:104097715..104306316hg19UCSC Ensembl
chr1:103899238..104107839hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38208602
hg19208602
hg18208602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546962, nsv546974, nsv546965, nsv546967, nsv546966, nsv546961, nsv546964, nsv546953, nsv546963, nsv546988, nsv546950
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv392n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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