A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912262



Internal ID8924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42507518..42507569hg38UCSC Ensembl
chr2:42734658..42734709hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409483
Supporting Variants
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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