A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5125



Internal ID15203217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170289794..170325239hg38UCSC Ensembl
Outerchr5:169716798..169752243hg19UCSC Ensembl
Outerchr5:169649376..169684821hg18UCSC Ensembl
Outerchr5:169649376..169684821hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384278
hg194278
hg184278
hg174278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3404
SamplesNA12878
Known GenesLCP2
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)nsv5125
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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