A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv891



Internal ID15552912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113027925..113053847hg38UCSC Ensembl
Outerchr12:113465730..113491652hg19UCSC Ensembl
Outerchr12:111950113..111976035hg18UCSC Ensembl
Outerchr12:111928450..111954372hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3825923
hg1925923
hg1825923
hg1725923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5452
SamplesNA19129
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)nsv891
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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