A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6370



Internal ID15551273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:121458289..121493626hg38UCSC Ensembl
Outerchr8:122470529..122505866hg19UCSC Ensembl
Outerchr8:122539710..122575047hg18UCSC Ensembl
Outerchr8:122539710..122575047hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385660
hg195660
hg185660
hg175660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv767
SamplesNA19240
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)nsv6370
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