A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv233n27



Internal ID22766962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78295146..78341709hg38UCSC Ensembl
chr13:78869281..78915844hg19UCSC Ensembl
chr13:77767282..77813845hg18UCSC Ensembl
chr13:77767282..77813845hg17UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3846564
hg1946564
hg1846564
hg1746564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455991, nsv455993, nsv455992
SamplesHGDP01191, HGDP01309, HGDP01312
Known GenesRNF219-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv233n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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