A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv670



Internal ID15551635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33305516..33350165hg38UCSC Ensembl
Outerchr12:33458451..33503100hg19UCSC Ensembl
Outerchr12:33349718..33394367hg18UCSC Ensembl
Outerchr12:33349718..33394367hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3844650
hg1944650
hg1844650
hg1744650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9017
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)nsv670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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