A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv304



Internal ID15200923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44845857..44890751hg38UCSC Ensembl
Outerchr11:44867408..44912302hg19UCSC Ensembl
Outerchr11:44823984..44868878hg18UCSC Ensembl
Outerchr11:44823984..44868878hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3844895
hg1944895
hg1844895
hg1744895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8905
SamplesNA12156
Known GenesTSPAN18
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)nsv304
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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