A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1758



Internal ID15546321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20131286..20166294hg38UCSC Ensembl
Outerchr16:20142608..20177616hg19UCSC Ensembl
Outerchr16:20050109..20085117hg18UCSC Ensembl
Outerchr16:20050109..20085117hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384726
hg194726
hg184726
hg174726
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4200
SamplesNA12878
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)nsv1758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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