A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2146



Internal ID15194743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68502128..68533232hg38UCSC Ensembl
Outerchr16:68536031..68567135hg19UCSC Ensembl
Outerchr16:67093532..67124636hg18UCSC Ensembl
Outerchr16:67093532..67124636hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg388918
hg198918
hg188918
hg178918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1849
Supporting Variants
SamplesNA18555
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)nssv2146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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