A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420



Internal ID15551328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139122704..139156516hg38UCSC Ensembl
Outerchr8:140134947..140168759hg19UCSC Ensembl
Outerchr8:140204129..140237941hg18UCSC Ensembl
Outerchr8:140204129..140237941hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385929
hg195929
hg185929
hg175929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3693
SamplesNA12878
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)nsv6420
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