A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1369



Internal ID15545932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79596501..79628868hg38UCSC Ensembl
Outerchr14:80062844..80095211hg19UCSC Ensembl
Outerchr14:79132597..79164964hg18UCSC Ensembl
Outerchr14:79132597..79164964hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387344
hg197344
hg187344
hg177344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4126
SamplesNA12878
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)nsv1369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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