A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5354



Internal ID15203469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248477370..248524770hg38UCSC Ensembl
Outerchr1:248640671..248688071hg19UCSC Ensembl
Outerchr1:246707294..246754694hg18UCSC Ensembl
Outerchr1:244966712..245014112hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3847401
hg1947401
hg1847401
hg1747401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1824, nssv3852
SamplesNA12878, NA18555
Known GenesOR2G6, OR2T5
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)nsv5354
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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