A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5053



Internal ID15203138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147006569..147032983hg38UCSC Ensembl
Outerchr5:146386132..146412546hg19UCSC Ensembl
Outerchr5:146366325..146392739hg18UCSC Ensembl
Outerchr5:146366325..146392739hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826415
hg1926415
hg1826415
hg1726415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2549
SamplesNA18555
Known GenesPPP2R2B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5053
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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