A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv881n54



Internal ID18993057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243619693..243620246hg38UCSC Ensembl
chr1:243782995..243783548hg19UCSC Ensembl
chr1:241849618..241850171hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38554
hg19554
hg18554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549488, nsv549490
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv881n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss124
Observed Complex0
Frequencyn/a


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