A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4688



Internal ID15549422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3981167..3994434hg38UCSC Ensembl
Outerchr5:3981281..3994548hg19UCSC Ensembl
Outerchr5:4034281..4047548hg18UCSC Ensembl
Outerchr5:4034281..4047548hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384698
hg194698
hg184698
hg174698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3321
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)nsv4688
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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