A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv702n54



Internal ID22768597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191459351..191522143hg38UCSC Ensembl
chr1:191428481..191491273hg19UCSC Ensembl
chr1:189695104..189757896hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3862793
hg1962793
hg1862793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548588, nsv548584, nsv548587
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv702n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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