A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7416



Internal ID15552423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47265443..47357414hg38UCSC Ensembl
Outerchr8:48178035..48269981hg19UCSC Ensembl
Outerchr8:48340588..48432534hg18UCSC Ensembl
Outerchr8:48340588..48432534hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3891972
hg1991947
hg1891947
hg1791947
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5085, nssv9747, nssv1736, nssv10619, nssv3647, nssv9459, nssv6220
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA18517, NA19129
Known GenesSPIDR
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)nsv7416
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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