A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516



Internal ID15549941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119877455..119902888hg38UCSC Ensembl
Outerchr11:119748164..119773597hg19UCSC Ensembl
Outerchr11:119253374..119278807hg18UCSC Ensembl
Outerchr11:119253374..119278807hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385453
hg195453
hg185453
hg175453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8967
SamplesNA12156
Known Genes
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)nsv516
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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