A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469



Internal ID15549424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:104955575..104984109hg38UCSC Ensembl
Outerchr11:104826302..104854836hg19UCSC Ensembl
Outerchr11:104331512..104360046hg18UCSC Ensembl
Outerchr11:104331512..104360046hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3810970
hg1910970
hg1810970
hg1710970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10837
SamplesNA18956
Known GenesCASP4
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)nsv469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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