A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930487



Internal ID17307815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61375058..61377032hg38UCSC Ensembl
Outerchr5:60670885..60672859hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381975
hg191975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607665
Samples
Known GenesZSWIM6
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the FAM133B 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)nsv930487
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer