A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1816



Internal ID15546379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57973452..58018171hg38UCSC Ensembl
Outerchr16:58007356..58052075hg19UCSC Ensembl
Outerchr16:56564857..56609576hg18UCSC Ensembl
Outerchr16:56564857..56609576hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3844720
hg1944720
hg1844720
hg1744720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7254
SamplesNA12156
Known GenesTEPP, USB1, ZNF319
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)nsv1816
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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