A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607669



Internal ID17307762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96750266..96750923hg38UCSC Ensembl
Outerchr10:98510023..98510680hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv930478
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the RPL13A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607669
Frequency
Sample Size946
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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