A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147



Internal ID15194744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69162460..69195518hg38UCSC Ensembl
Outerchr16:69196363..69229421hg19UCSC Ensembl
Outerchr16:67753864..67786922hg18UCSC Ensembl
Outerchr16:67753864..67786922hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg386967
hg196967
hg186967
hg176967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1851
Supporting Variants
SamplesNA18555
Known GenesCIRH1A, SNTB2
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)nssv2147
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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