A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1759



Internal ID8513304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20339264..20373446hg38UCSC Ensembl
Outerchr16:20350586..20384768hg19UCSC Ensembl
Outerchr16:20258087..20292269hg18UCSC Ensembl
Outerchr16:20258087..20292269hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386795
hg196795
hg186795
hg176795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1299
SamplesNA19240
Known GenesPDILT, UMOD
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)nsv1759
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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