A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1368



Internal ID15545931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:78742758..78749920hg38UCSC Ensembl
Outerchr14:79209101..79216263hg19UCSC Ensembl
Outerchr14:78278854..78286016hg18UCSC Ensembl
Outerchr14:78278854..78286016hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387708
hg197708
hg187708
hg177708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10025
SamplesNA18956
Known GenesNRXN3
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)nsv1368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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