A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6116



Internal ID15204307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22368575..22399366hg38UCSC Ensembl
Outerchr8:22226088..22256879hg19UCSC Ensembl
Outerchr8:22282033..22312824hg18UCSC Ensembl
Outerchr8:22282033..22312824hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg388466
hg198466
hg188466
hg178466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5066
SamplesNA19129
Known GenesSLC39A14
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)nsv6116
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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