A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4540n54



Internal ID22772435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:54198575..54204086hg38UCSC Ensembl
chr15:54490772..54496283hg19UCSC Ensembl
chr15:52278064..52283575hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg385512
hg195512
hg185512
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569497, nsv569500
Samples
Known GenesUNC13C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4540n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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