A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4766



Internal ID8516490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226838253..226883260hg38UCSC Ensembl
Outerchr1:227025954..227070961hg19UCSC Ensembl
Outerchr1:225092577..225137584hg18UCSC Ensembl
Outerchr1:223332689..223377696hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3845008
hg1945008
hg1845008
hg1745008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8162
SamplesNA12156
Known GenesPSEN2
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)nsv4766
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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