A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5123



Internal ID15203215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:169587033..169595273hg38UCSC Ensembl
Outerchr5:169014037..169022277hg19UCSC Ensembl
Outerchr5:168946615..168954855hg18UCSC Ensembl
Outerchr5:168946615..168954855hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8190
SamplesNA12156
Known GenesSPDL1
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)nsv5123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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