A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3793



Internal ID15548438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45211340..45241971hg38UCSC Ensembl
Outerchr3:45252832..45283463hg19UCSC Ensembl
Outerchr3:45227836..45258467hg18UCSC Ensembl
Outerchr3:45227836..45258467hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388807
hg198807
hg188807
hg178807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7004
SamplesNA12156
Known GenesTMEM158
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)nsv3793
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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