A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1313



Internal ID15545876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65943343..65970579hg38UCSC Ensembl
Outerchr14:66410061..66437297hg19UCSC Ensembl
Outerchr14:65479814..65507050hg18UCSC Ensembl
Outerchr14:65479814..65507050hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3827237
hg1927237
hg1827237
hg1727237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9207
SamplesNA12156
Known Genes
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)nsv1313
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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