A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv302



Internal ID15200901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43995865..44041167hg38UCSC Ensembl
Outerchr11:44017415..44062717hg19UCSC Ensembl
Outerchr11:43973991..44019293hg18UCSC Ensembl
Outerchr11:43973991..44019293hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3845303
hg1945303
hg1845303
hg1745303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8903
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)nsv302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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