A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1718



Internal ID15546281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3986234..4020252hg38UCSC Ensembl
Outerchr16:4036235..4070253hg19UCSC Ensembl
Outerchr16:3976236..4010254hg18UCSC Ensembl
Outerchr16:3976236..4010254hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385411
hg195411
hg185411
hg175411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7225
SamplesNA12156
Known GenesADCY9
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)nsv1718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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