A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566



Internal ID8517473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39590786..39624067hg38UCSC Ensembl
Outerchr1:40056458..40089739hg19UCSC Ensembl
Outerchr1:39829045..39862326hg18UCSC Ensembl
Outerchr1:39725551..39758832hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386156
hg196156
hg186156
hg176156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9038
SamplesNA12156
Known GenesHEYL
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)nsv566
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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