A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1352



Internal ID15545915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73951320..73996025hg38UCSC Ensembl
Outerchr14:74418023..74462728hg19UCSC Ensembl
Outerchr14:73487776..73532481hg18UCSC Ensembl
Outerchr14:73487776..73532481hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3844706
hg1944706
hg1844706
hg1744706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9216
SamplesNA12156
Known GenesCOQ6, ENTPD5
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)nsv1352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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