A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv808



Internal ID15552829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:89179781..89224469hg38UCSC Ensembl
Outerchr12:89573558..89618246hg19UCSC Ensembl
Outerchr12:88097689..88142377hg18UCSC Ensembl
Outerchr12:88076026..88120714hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3844689
hg1944689
hg1844689
hg1744689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9057
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)nsv808
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer