A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5005



Internal ID15549771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133443386..133485341hg38UCSC Ensembl
Outerchr5:132779078..132821033hg19UCSC Ensembl
Outerchr5:132806977..132848932hg18UCSC Ensembl
Outerchr5:132806977..132848932hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3841956
hg1941956
hg1841956
hg1741956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8150
SamplesNA12156
Known GenesFSTL4
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)nsv5005
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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