A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4223



Internal ID15538950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71280465..71292771hg38UCSC Ensembl
Outerchr16:71314368..71326674hg19UCSC Ensembl
Outerchr16:69871869..69884175hg18UCSC Ensembl
Outerchr16:69871869..69884175hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385416
hg195416
hg185416
hg175416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1861
Supporting Variants
SamplesNA12878
Known GenesCMTR2
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)nssv4223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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