A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1283



Internal ID15545846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:55653341..55698011hg38UCSC Ensembl
Outerchr14:56120059..56164729hg19UCSC Ensembl
Outerchr14:55189812..55234482hg18UCSC Ensembl
Outerchr14:55189812..55234482hg17UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3844671
hg1944671
hg1844671
hg1744671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9198
SamplesNA12156
Known GenesKTN1
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)nsv1283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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