A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12996n54



Internal ID22780891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135905450..135908222hg38UCSC Ensembl
chr9:138797296..138800068hg19UCSC Ensembl
chr9:137937117..137939889hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382773
hg192773
hg182773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615932, nsv615931
Samples
Known GenesCAMSAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12996n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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