A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1324



Internal ID15545887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68307693..68321917hg38UCSC Ensembl
Outerchr14:68774410..68788634hg19UCSC Ensembl
Outerchr14:67844163..67858387hg18UCSC Ensembl
Outerchr14:67844163..67858387hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386737
hg196737
hg186737
hg176737
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1204
SamplesNA19240
Known GenesRAD51B
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)nsv1324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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