A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5597



Internal ID15197163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24514239..24548475hg38UCSC Ensembl
Outerchr16:24525560..24559796hg19UCSC Ensembl
Outerchr16:24433061..24467297hg18UCSC Ensembl
Outerchr16:24433061..24467297hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3834237
hg1934237
hg1834237
hg1734237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1769
Supporting Variants
SamplesNA19129
Known GenesRBBP6
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)nssv5597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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