A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5052



Internal ID15203137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146559163..146592780hg38UCSC Ensembl
Outerchr5:145938726..145972343hg19UCSC Ensembl
Outerchr5:145918919..145952536hg18UCSC Ensembl
Outerchr5:145918919..145952536hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385724
hg195724
hg185724
hg175724
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2711
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)nsv5052
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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