A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8470



Internal ID15188708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19193978..19238836hg38UCSC Ensembl
Outerchr8:19051488..19096346hg19UCSC Ensembl
Outerchr8:19095768..19140626hg18UCSC Ensembl
Outerchr8:19095768..19140626hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3844859
hg1944859
hg1844859
hg1744859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6102
Supporting Variants
SamplesNA12156
Known GenesLOC100128993
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)nssv8470
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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