A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513506



Internal ID15506242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1149141..1149153hg38UCSC Ensembl
Outerchr19:1149140..1149152hg19UCSC Ensembl
Outerchr19:1100140..1100152hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381174
hg191174
hg181174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625918
Samples1
Known GenesSBNO2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513506
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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