A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv613n54



Internal ID22768508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167791494..167797903hg38UCSC Ensembl
chr1:167760731..167767140hg19UCSC Ensembl
chr1:166027355..166033764hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386410
hg196410
hg186410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548099, nsv548100
Samples
Known GenesMPZL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv613n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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