A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv378



Internal ID15548423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70207453..70261237hg38UCSC Ensembl
Outerchr11:70053559..70107343hg19UCSC Ensembl
Outerchr11:69731207..69784991hg18UCSC Ensembl
Outerchr11:69731207..69784991hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3853785
hg1953785
hg1853785
hg1753785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9272
SamplesNA18517
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)nsv378
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