A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv724n54



Internal ID22768619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194556757..194672045hg38UCSC Ensembl
chr1:194525887..194641175hg19UCSC Ensembl
chr1:192792510..192907798hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38115289
hg19115289
hg18115289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548691, nsv548692
SamplesNINDS_95
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv724n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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