A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5147



Internal ID15203241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177511195..177556017hg38UCSC Ensembl
Outerchr5:176938196..176983018hg19UCSC Ensembl
Outerchr5:176870802..176915624hg18UCSC Ensembl
Outerchr5:176870802..176915624hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3844823
hg1944823
hg1844823
hg1744823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8204
SamplesNA12156
Known GenesDDX41, FAM193B
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)nsv5147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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