A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv603n54



Internal ID22768498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159042982..159049312hg38UCSC Ensembl
chr1:159012772..159019102hg19UCSC Ensembl
chr1:157279396..157285726hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386331
hg196331
hg186331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548047, nsv548046, nsv548045
Samples
Known GenesIFI16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv603n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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