A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5430n54



Internal ID22773325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4416311..4479434hg38UCSC Ensembl
chr17:4319606..4382729hg19UCSC Ensembl
chr17:4266355..4329478hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3863124
hg1963124
hg1863124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574270, nsv574271
SamplesHGDP00813
Known GenesSPNS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5430n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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