A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6197



Internal ID15551082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54645356..54650563hg38UCSC Ensembl
Outerchr8:55557916..55563123hg19UCSC Ensembl
Outerchr8:55720469..55725676hg18UCSC Ensembl
Outerchr8:55720469..55725676hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385760
hg195760
hg185760
hg175760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5088
SamplesNA19129
Known Genes
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)nsv6197
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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