A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv416



Internal ID15548841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:85537673..85561795hg38UCSC Ensembl
Outerchr11:85248717..85272839hg19UCSC Ensembl
Outerchr11:84926365..84950487hg18UCSC Ensembl
Outerchr11:84926365..84950487hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385063
hg195063
hg185063
hg175063
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971
SamplesNA12878
Known GenesDLG2
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)nsv416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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