A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6391



Internal ID15551296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128422313..128488281hg38UCSC Ensembl
Outerchr8:129434559..129500527hg19UCSC Ensembl
Outerchr8:129503741..129569709hg18UCSC Ensembl
Outerchr8:129503741..129569709hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3865969
hg1965969
hg1865969
hg1765969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10642, nssv1769, nssv5128, nssv9918, nssv772, nssv6253, nssv9469, nssv3688
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA18517, NA19240, 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)nsv6391
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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