A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5366



Internal ID15543098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70346739..70372946hg38UCSC Ensembl
Outerchr11:70192845..70219052hg19UCSC Ensembl
Outerchr11:69870493..69896700hg18UCSC Ensembl
Outerchr11:69870493..69896700hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385964
hg195964
hg185964
hg175964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv379
Supporting Variants
SamplesNA19129
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)nssv5366
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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