A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1803



Internal ID15546366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49398236..49432441hg38UCSC Ensembl
Outerchr16:49432147..49466352hg19UCSC Ensembl
Outerchr16:47989648..48023853hg18UCSC Ensembl
Outerchr16:47989648..48023853hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385233
hg195233
hg185233
hg175233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7249
SamplesNA12156
Known GenesC16orf78
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)nsv1803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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