A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv811



Internal ID15552832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90087873..90102998hg38UCSC Ensembl
Outerchr12:90481650..90496775hg19UCSC Ensembl
Outerchr12:89005781..89020906hg18UCSC Ensembl
Outerchr12:88984118..88999243hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3815126
hg1915126
hg1815126
hg1715126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2005
SamplesNA18555
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)nsv811
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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