A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv417



Internal ID15548852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:85749244..85780594hg38UCSC Ensembl
Outerchr11:85460287..85491637hg19UCSC Ensembl
Outerchr11:85137935..85169285hg18UCSC Ensembl
Outerchr11:85137935..85169285hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg387932
hg197932
hg187932
hg177932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5369
SamplesNA19129
Known GenesSYTL2
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)nsv417
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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