A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4686



Internal ID15549420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3886474..3907540hg38UCSC Ensembl
Outerchr5:3886588..3907654hg19UCSC Ensembl
Outerchr5:3939588..3960654hg18UCSC Ensembl
Outerchr5:3939588..3960654hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387450
hg197450
hg187450
hg177450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7144, nssv4816
SamplesNA12156, NA19129
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)nsv4686
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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