A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607693



Internal ID17307786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:8827354..8827380hg38UCSC Ensembl
Outerchr3:8869039..8869065hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv930474
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of SLMO2 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607693
Frequency
Sample Size946
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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