A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11513n54



Internal ID22779408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94709551..94942020hg38UCSC Ensembl
chr7:94338863..94571332hg19UCSC Ensembl
chr7:94176799..94409268hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38232470
hg19232470
hg18232470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607858, nsv607857
SamplesNINDS_91
Known GenesPPP1R9A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11513n54
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