A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401863



Internal ID181238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138528736..138528787hg38UCSC Ensembl
chr2:139286306..139286357hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924308
Samples
Known GenesSPOPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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