A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv396n54



Internal ID20133820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103564446..103593753hg38UCSC Ensembl
chr1:104107068..104136375hg19UCSC Ensembl
chr1:103908591..103937898hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3829308
hg1929308
hg1829308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546971, nsv546968, nsv546970
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv396n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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