A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1017



Internal ID15544754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70350462..70378332hg38UCSC Ensembl
Outerchr11:70196568..70224438hg19UCSC Ensembl
Outerchr11:69874216..69902086hg18UCSC Ensembl
Outerchr11:69874216..69902086hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg386574
hg196574
hg186574
hg176574
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv379
Supporting Variants
SamplesNA19240
Known GenesPPFIA1
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)nssv1017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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