A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3992n54



Internal ID22771887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105474172..105475240hg38UCSC Ensembl
chr14:105940509..105941577hg19UCSC Ensembl
chr14:105011554..105012622hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381069
hg191069
hg181069
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv566241, nsv566232, nsv566230, nsv566238, nsv566252, nsv566242, nsv566231, nsv566225, nsv566253, nsv566223, nsv566239, nsv566240, nsv566233
Samples
Known GenesCRIP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3992n54
Frequency
Sample Size17421
Observed Gain31
Observed Loss30
Observed Complex0
Frequencyn/a


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