A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2014



Internal ID15546577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27391938..27437190hg38UCSC Ensembl
Outerchr17:25718964..25764216hg19UCSC Ensembl
Outerchr17:22743091..22788343hg18UCSC Ensembl
Outerchr17:22743091..22788343hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3845253
hg1945253
hg1845253
hg1745253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7316
SamplesNA12156
Known GenesTBC1D3P5
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)nsv2014
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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