A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv729



Internal ID15552284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58096311..58141683hg38UCSC Ensembl
Outerchr12:58490094..58535466hg19UCSC Ensembl
Outerchr12:56776361..56821733hg18UCSC Ensembl
Outerchr12:56776361..56821733hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3845373
hg1945373
hg1845373
hg1745373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6509
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)nsv729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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