A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474



Internal ID15202793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106886294..106924420hg38UCSC Ensembl
Outerchr11:106757020..106795146hg19UCSC Ensembl
Outerchr11:106262230..106300356hg18UCSC Ensembl
Outerchr11:106262230..106300356hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3838127
hg1938127
hg1838127
hg1738127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962
SamplesNA18555
Known GenesGUCY1A2
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)nsv474
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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