A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7186n54



Internal ID22775081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178193954..178194931hg38UCSC Ensembl
chr2:179058681..179059658hg19UCSC Ensembl
chr2:178766927..178767904hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38978
hg19978
hg18978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583746, nsv583745, nsv583740, nsv583741, nsv583743
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7186n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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