A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346



Internal ID15201260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31789992..31821343hg38UCSC Ensembl
Outerchr20:30377795..30409146hg19UCSC Ensembl
Outerchr20:29841456..29872807hg18UCSC Ensembl
Outerchr20:29841456..29872807hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg388154
hg198154
hg188154
hg178154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10290
SamplesNA18956
Known GenesMYLK2, TPX2
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)nsv3346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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