A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv734n54



Internal ID22768629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196742052..196853900hg38UCSC Ensembl
chr1:196711182..196823030hg19UCSC Ensembl
chr1:194977805..195089653hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111849
hg19111849
hg18111849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548764, nsv548751, nsv548753, nsv548759, nsv548763, nsv548768, nsv548760, nsv548762, nsv548761, nsv548769
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv734n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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