A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4672



Internal ID15202719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:351207..352642hg38UCSC Ensembl
Outerchr5:351322..352757hg19UCSC Ensembl
Outerchr5:404322..405757hg18UCSC Ensembl
Outerchr5:404322..405757hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385535
hg195535
hg185535
hg175535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3318
SamplesNA12878
Known GenesAHRR
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)nsv4672
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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