A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5117



Internal ID15549894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168239696..168284852hg38UCSC Ensembl
Outerchr5:167666701..167711857hg19UCSC Ensembl
Outerchr5:167599279..167644435hg18UCSC Ensembl
Outerchr5:167599279..167644435hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3845157
hg1945157
hg1845157
hg1745157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8188
SamplesNA12156
Known GenesTENM2
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)nsv5117
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