A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1283



Internal ID15544440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:485468..512038hg38UCSC Ensembl
Outerchr16:535468..562038hg19UCSC Ensembl
Outerchr16:475469..502039hg18UCSC Ensembl
Outerchr16:475469..502039hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386389
hg196389
hg186389
hg176389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1701
Supporting Variants
SamplesNA19240
Known GenesRAB11FIP3
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)nssv1283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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