A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv823



Internal ID15206158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93421907..93466602hg38UCSC Ensembl
Outerchr12:93815683..93860378hg19UCSC Ensembl
Outerchr12:92339814..92384509hg18UCSC Ensembl
Outerchr12:92318151..92362846hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3844696
hg1944696
hg1844696
hg1744696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9062
SamplesNA12156
Known GenesUBE2N
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)nsv823
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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