A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3809



Internal ID15548455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48474359..48502729hg38UCSC Ensembl
Outerchr3:48515768..48540162hg19UCSC Ensembl
Outerchr3:48490772..48515166hg18UCSC Ensembl
Outerchr3:48490772..48515166hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385006
hg195006
hg185006
hg175006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3094, nssv3162
SamplesNA12878, NA18555
Known GenesSHISA5
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)nsv3809
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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