A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675631



Internal ID21701952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75108173..75108173hg38UCSC Ensembl
chr2:75335299..75335299hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207766, nssv17208997
Samples
Known GenesTACR1
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)nsv5675631
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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