A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv397n54



Internal ID20133821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103567100..103775792hg38UCSC Ensembl
chr1:104109722..104318414hg19UCSC Ensembl
chr1:103911245..104119937hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38208693
hg19208693
hg18208693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547017, nsv546975
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv397n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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