A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450



Internal ID15544884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14646946..14657209hg38UCSC Ensembl
Outerchr5:14647055..14657318hg19UCSC Ensembl
Outerchr5:14700055..14710318hg18UCSC Ensembl
Outerchr5:14700055..14710318hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg385994
hg195994
hg185994
hg175994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4727
Supporting Variants
SamplesNA19240
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)nssv450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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