A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513760



Internal ID15853181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54221726..54242028hg38UCSC Ensembl
Outerchr19:54725598..54745904hg19UCSC Ensembl
Outerchr19:59417410..59437716hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3820307
hg1920307
hg1820307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627012
Samples1
Known GenesLILRA6, LILRB3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513760
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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