A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402663



Internal ID182032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192839925..192839976hg38UCSC Ensembl
chr3:192557714..192557765hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945917
Samples
Known GenesMB21D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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