A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv595n54



Internal ID22768490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158757235..158759923hg38UCSC Ensembl
chr1:158727025..158729713hg19UCSC Ensembl
chr1:156993649..156996337hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382689
hg192689
hg182689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548006, nsv548015, nsv548018, nsv548005, nsv548012
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv595n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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