A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv750n54



Internal ID22768645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196818614..196898103hg38UCSC Ensembl
chr1:196787744..196867233hg19UCSC Ensembl
chr1:195054367..195133856hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3879490
hg1979490
hg1879490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548833, nsv548830
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv750n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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