A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv504



Internal ID15549809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116179142..116213617hg38UCSC Ensembl
Outerchr11:116049859..116084334hg19UCSC Ensembl
Outerchr11:115555069..115589544hg18UCSC Ensembl
Outerchr11:115555069..115589544hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385550
hg195550
hg185550
hg175550
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2872
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)nsv504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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