A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1350n54



Internal ID20134774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:92689403..92690681hg38UCSC Ensembl
chr10:94449160..94450438hg19UCSC Ensembl
chr10:94439140..94440418hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381279
hg191279
hg181279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv551937, nsv551933, nsv551930, nsv551928, nsv551926, nsv551936
Samples
Known GenesHHEX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1350n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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