A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3749



Internal ID15548389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:31073633..31106530hg38UCSC Ensembl
Outerchr3:31115125..31148022hg19UCSC Ensembl
Outerchr3:31090129..31123026hg18UCSC Ensembl
Outerchr3:31090129..31123026hg17UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg386838
hg196838
hg186838
hg176838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3154
SamplesNA12878
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)nsv3749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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