A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930488



Internal ID17307816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40561967..40561992hg38UCSC Ensembl
Outerchr15:40854166..40854191hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607681
Samples
Known GenesC15orf57
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of CBX3 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930488
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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