A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9016



Internal ID15188162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31050812..31096121hg38UCSC Ensembl
Outerchr12:31203746..31249055hg19UCSC Ensembl
Outerchr12:31095013..31140322hg18UCSC Ensembl
Outerchr12:31095013..31140322hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3845310
hg1945310
hg1845310
hg1745310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv659
Supporting Variants
SamplesNA12156
Known GenesDDX11, DDX11-AS1
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)nssv9016
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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