A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5051



Internal ID15549822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146410821..146445001hg38UCSC Ensembl
Outerchr5:145790384..145824564hg19UCSC Ensembl
Outerchr5:145770577..145804757hg18UCSC Ensembl
Outerchr5:145770577..145804757hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386817
hg196817
hg186817
hg176817
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv502
SamplesNA19240
Known Genes
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)nsv5051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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