A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv749n54



Internal ID22768644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196808587..196835130hg38UCSC Ensembl
chr1:196777717..196804260hg19UCSC Ensembl
chr1:195044340..195070883hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3826544
hg1926544
hg1826544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548819, nsv548818, nsv548827, nsv548825
Samples
Known GenesCFHR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv749n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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