A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv527n54



Internal ID22768422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121422747..121628780hg38UCSC Ensembl
chr1:121164607..121370578hg19UCSC Ensembl
chr1:120866130..121072101hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38206034
hg19205972
hg18205972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547632, nsv547631, nsv547629, nsv547630, nsv547633
Samples1780862597_A, 1780854327_A
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv527n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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