A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513527



Internal ID15852949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38554294..38555057hg38UCSC Ensembl
Outerchr19:39044934..39045697hg19UCSC Ensembl
Outerchr19:43736774..43737537hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38904
hg19904
hg18904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625941
Samples1
Known GenesRYR1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513527
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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