A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6237



Internal ID15551126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66452287..66486814hg38UCSC Ensembl
Outerchr8:67364522..67399049hg19UCSC Ensembl
Outerchr8:67527076..67561603hg18UCSC Ensembl
Outerchr8:67527076..67561603hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg385220
hg195220
hg185220
hg175220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3658
SamplesNA12878
Known GenesADHFE1
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)nsv6237
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