A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1043



Internal ID15198379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117579088..117614363hg38UCSC Ensembl
Outerchr11:117449803..117485078hg19UCSC Ensembl
Outerchr11:116955013..116990288hg18UCSC Ensembl
Outerchr11:116955013..116990288hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385725
hg195725
hg185725
hg175725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508
Supporting Variants
SamplesNA19240
Known GenesDSCAML1
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)nssv1043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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