A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv308



Internal ID15547653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46220736..46265991hg38UCSC Ensembl
Outerchr11:46242287..46287542hg19UCSC Ensembl
Outerchr11:46198863..46244118hg18UCSC Ensembl
Outerchr11:46198863..46244118hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3845256
hg1945256
hg1845256
hg1745256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8907
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)nsv308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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