A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523



Internal ID15550018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120965643..120999130hg38UCSC Ensembl
Outerchr11:120836352..120869839hg19UCSC Ensembl
Outerchr11:120341562..120375049hg18UCSC Ensembl
Outerchr11:120341562..120375049hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385945
hg195945
hg185945
hg175945
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8969
SamplesNA12156
Known GenesGRIK4
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)nsv523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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