A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6236



Internal ID15204439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66447077..66491746hg38UCSC Ensembl
Outerchr8:67359312..67403981hg19UCSC Ensembl
Outerchr8:67521866..67566535hg18UCSC Ensembl
Outerchr8:67521866..67566535hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3844670
hg1944670
hg1844670
hg1744670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5097
SamplesNA19129
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)nsv6236
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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