A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3450n54



Internal ID18995626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113754200..113886735hg38UCSC Ensembl
chr13:114457173..114589708hg19UCSC Ensembl
chr13:113524235..113656958hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38132536
hg19132536
hg18132724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv563382, nsv563389
Samples
Known GenesGAS6, GAS6-AS1, GAS6-AS2, TMEM255B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3450n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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