A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5599



Internal ID15543846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:26146892..26179548hg38UCSC Ensembl
Outerchr16:26158213..26190869hg19UCSC Ensembl
Outerchr16:26065714..26098370hg18UCSC Ensembl
Outerchr16:26065714..26098370hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg386630
hg196630
hg186630
hg176630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1771
Supporting Variants
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)nssv5599
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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