A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244



Internal ID15204448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69667061..69701867hg38UCSC Ensembl
Outerchr8:70579296..70614102hg19UCSC Ensembl
Outerchr8:70741850..70776656hg18UCSC Ensembl
Outerchr8:70741850..70776656hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3834807
hg1934807
hg1834807
hg1734807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8508
SamplesNA12156
Known GenesSLCO5A1
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)nsv6244
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