A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5388



Internal ID15196288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134353547..134380498hg38UCSC Ensembl
Outerchr11:134223441..134250392hg19UCSC Ensembl
Outerchr11:133728651..133755602hg18UCSC Ensembl
Outerchr11:133728651..133755602hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg386703
hg196703
hg186703
hg176703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561
Supporting Variants
SamplesNA19129
Known GenesB3GAT1, GLB1L2
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)nssv5388
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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