A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv686



Internal ID15551811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:44277457..44303127hg38UCSC Ensembl
Outerchr12:44671240..44696910hg19UCSC Ensembl
Outerchr12:42957507..42983177hg18UCSC Ensembl
Outerchr12:42957507..42983177hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3825671
hg1925671
hg1825671
hg1725671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9023
SamplesNA12156
Known GenesTMEM117
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)nsv686
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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