A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513586



Internal ID15506322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25819941..25820054hg38UCSC Ensembl
Outerchr22:26215908..26216021hg19UCSC Ensembl
Outerchr22:24545908..24546021hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381157
hg191157
hg181157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626838
Samples1
Known GenesMIR1302-1, MYO18B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513586
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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