A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1319



Internal ID15545882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67396844..67442008hg38UCSC Ensembl
Outerchr14:67863561..67908725hg19UCSC Ensembl
Outerchr14:66933314..66978478hg18UCSC Ensembl
Outerchr14:66933314..66978478hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3845165
hg1945165
hg1845165
hg1745165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9208
SamplesNA12156
Known GenesPLEK2
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)nsv1319
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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