A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11064n54



Internal ID22778959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167979102..168219991hg38UCSC Ensembl
chr6:168379782..168620671hg19UCSC Ensembl
chr6:168122631..168363520hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38240890
hg19240890
hg18240890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605448, nsv605446, nsv605450, nsv605442, nsv605444, nsv605443, nsv605452, nsv605449, nsv605447, nsv605453
Samples
Known GenesFRMD1, KIF25, KIF25-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11064n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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