A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687702



Internal ID21714023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188439242..188439242hg38UCSC Ensembl
chr2:189303969..189303969hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229856, nssv17208696
Samples
Known GenesGULP1
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)nsv5687702
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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