A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333



Internal ID15551232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101380700..101411426hg38UCSC Ensembl
Outerchr8:102392928..102423654hg19UCSC Ensembl
Outerchr8:102462104..102492830hg18UCSC Ensembl
Outerchr8:102462104..102492830hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg388553
hg198553
hg188553
hg178553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5121
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)nsv6333
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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