A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv543



Internal ID15550238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128720166..128753994hg38UCSC Ensembl
Outerchr11:128590061..128623889hg19UCSC Ensembl
Outerchr11:128095271..128129099hg18UCSC Ensembl
Outerchr11:128095271..128129099hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg385920
hg195920
hg185920
hg175920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000
SamplesNA12878
Known GenesFLI1
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)nsv543
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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