A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv717n54



Internal ID20134141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192314099..192404649hg38UCSC Ensembl
chr1:192283229..192373779hg19UCSC Ensembl
chr1:190549852..190640402hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3890551
hg1990551
hg1890551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548656, nsv548657
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv717n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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