A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv532



Internal ID15203431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125462800..125488621hg38UCSC Ensembl
Outerchr11:125332696..125358517hg19UCSC Ensembl
Outerchr11:124837906..124863727hg18UCSC Ensembl
Outerchr11:124837906..124863727hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3825822
hg1925822
hg1825822
hg1725822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8974
SamplesNA12156
Known GenesFEZ1
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)nsv532
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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