A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200023



Internal ID21647532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2975727..2975727hg38UCSC Ensembl
chr18:2975725..2975725hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707510
Supporting Variants
Samples
Known GenesLPIN2
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)nssv17200023
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