A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5130



Internal ID15549909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:171187602..171217933hg38UCSC Ensembl
Outerchr5:170614606..170644937hg19UCSC Ensembl
Outerchr5:170547211..170577542hg18UCSC Ensembl
Outerchr5:170547211..170577542hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg389525
hg199525
hg189525
hg179525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11115
SamplesNA15510
Known GenesRANBP17
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)nsv5130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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