A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1767



Internal ID15546330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23217632..23248299hg38UCSC Ensembl
Outerchr16:23228953..23259620hg19UCSC Ensembl
Outerchr16:23136454..23167121hg18UCSC Ensembl
Outerchr16:23136454..23167121hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg388618
hg198618
hg188618
hg178618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5596
SamplesNA19129
Known Genes
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)nsv1767
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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