A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7187n54



Internal ID22775082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178193987..178195151hg38UCSC Ensembl
chr2:179058714..179059878hg19UCSC Ensembl
chr2:178766960..178768124hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381165
hg191165
hg181165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583748, nsv583750, nsv583744, nsv583749
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7187n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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