A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404



Internal ID15204624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:133428623..133462273hg38UCSC Ensembl
Outerchr8:134440866..134474516hg19UCSC Ensembl
Outerchr8:134510048..134543698hg18UCSC Ensembl
Outerchr8:134510048..134543698hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385782
hg195782
hg185782
hg175782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8560
SamplesNA12156
Known GenesST3GAL1
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)nsv6404
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