A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557



Internal ID15203706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132929427..132955060hg38UCSC Ensembl
Outerchr11:132799322..132824955hg19UCSC Ensembl
Outerchr11:132304532..132330165hg18UCSC Ensembl
Outerchr11:132304532..132330165hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3825634
hg1925634
hg1825634
hg1725634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8985
SamplesNA12156
Known GenesOPCML
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)nsv557
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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