A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv317



Internal ID15201066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47974351..47985714hg38UCSC Ensembl
Outerchr11:47995903..48007266hg19UCSC Ensembl
Outerchr11:47952479..47963842hg18UCSC Ensembl
Outerchr11:47952479..47963842hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811364
hg1911364
hg1811364
hg1711364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8912
SamplesNA12156
Known GenesPTPRJ
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)nsv317
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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