A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11469n54



Internal ID20144893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76516684..76517915hg38UCSC Ensembl
chr7:76146001..76147232hg19UCSC Ensembl
chr7:75983937..75985168hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381232
hg191232
hg181232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607617, nsv607605
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11469n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer