A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930467



Internal ID17307795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160894889..160896566hg38UCSC Ensembl
Outerchr1:160864679..160866356hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607678
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the SMS 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)nsv930467
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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