A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513315



Internal ID15852737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47371285..47371793hg38UCSC Ensembl
Outerchr11:47392836..47393344hg19UCSC Ensembl
Outerchr11:47349412..47349920hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381919
hg191919
hg181919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625702
Samples1
Known GenesSPI1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513315
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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