A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6446



Internal ID15204670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144012529..144050050hg38UCSC Ensembl
Outerchr8:145086697..145104951hg19UCSC Ensembl
Outerchr8:145158685..145176939hg18UCSC Ensembl
Outerchr8:145158685..145176939hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3812912
hg1912912
hg1812912
hg1712912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1779, nssv3700, nssv5142, nssv787, nssv10649
SamplesNA12878, NA18956, NA18555, NA19240, NA19129
Known GenesSPATC1
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)nsv6446
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer