A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9048



Internal ID15534816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:72416122..72458416hg38UCSC Ensembl
Outerchr12:72809902..72852196hg19UCSC Ensembl
Outerchr12:71096169..71138463hg18UCSC Ensembl
Outerchr12:71096169..71138463hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3842295
hg1942295
hg1842295
hg1742295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv772
Supporting Variants
SamplesNA12156
Known GenesTRHDE
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)nssv9048
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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