A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1392



Internal ID15199269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:90043670..90088418hg38UCSC Ensembl
Outerchr14:90510014..90554762hg19UCSC Ensembl
Outerchr14:89579767..89624515hg18UCSC Ensembl
Outerchr14:89579767..89624515hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3844749
hg1944749
hg1844749
hg1744749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9229
SamplesNA12156
Known GenesKCNK13, TDP1
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)nsv1392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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