A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212172



Internal ID21659681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61505636..61505636hg38UCSC Ensembl
chr5:60801463..60801463hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677764
Supporting Variants
Samples
Known GenesZSWIM6
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17212172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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