A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1814



Internal ID15546377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56132521..56168180hg38UCSC Ensembl
Outerchr16:56166433..56202092hg19UCSC Ensembl
Outerchr16:54723934..54759593hg18UCSC Ensembl
Outerchr16:54723934..54759593hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3835660
hg1935660
hg1835660
hg1735660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7252
SamplesNA12156
Known GenesLOC283856
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)nsv1814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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