A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471719



Internal ID15214634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27322734..27322946hg38UCSC Ensembl
chr8:27180251..27180463hg19UCSC Ensembl
chr8:27236168..27236380hg18UCSC Ensembl
chr8:27236168..27236380hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
hg17213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv646000
Samples
Known GenesPTK2B
MethodOligo aCGH
AnalysisHaploid hybridization data was used to identify genomic intervals showing reduced hybridization signal in comparison to the reference human genome sequence.
PlatformCustom Perlegen arrays
Comments
ReferenceHinds_et_al_2006
Pubmed ID16327809
Accession Number(s)nsv471719
Frequency
Sample Size95
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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