A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4789



Internal ID15202847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:34915890..34937211hg38UCSC Ensembl
Outerchr5:34915995..34937316hg19UCSC Ensembl
Outerchr5:34951752..34973073hg18UCSC Ensembl
Outerchr5:34951752..34973073hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3821322
hg1921322
hg1821322
hg1721322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8089
SamplesNA12156
Known GenesBRIX1, DNAJC21
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)nsv4789
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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