A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10649



Internal ID15195463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144017173..144044088hg38UCSC Ensembl
Outerchr8:145091341..145098989hg19UCSC Ensembl
Outerchr8:145163329..145170977hg18UCSC Ensembl
Outerchr8:145163329..145170977hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818978
hg1918978
hg1818978
hg1718978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6446
Supporting Variants
SamplesNA18956
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)nssv10649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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