A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6084



Internal ID15550958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:13134111..13169453hg38UCSC Ensembl
Outerchr8:12991620..13026962hg19UCSC Ensembl
Outerchr8:13035991..13071333hg18UCSC Ensembl
Outerchr8:13035991..13071333hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385630
hg195630
hg185630
hg175630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719
SamplesNA19240
Known GenesDLC1
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)nsv6084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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