A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1928



Internal ID15199805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88865211..88897277hg38UCSC Ensembl
Outerchr16:88931619..88963685hg19UCSC Ensembl
Outerchr16:87459120..87491186hg18UCSC Ensembl
Outerchr16:87459120..87491186hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg387222
hg197222
hg187222
hg177222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5622
SamplesNA19129
Known GenesCBFA2T3, PABPN1L
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)nsv1928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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