A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911507



Internal ID8436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39763747..39763798hg38UCSC Ensembl
chr2:39990887..39990938hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402669
Supporting Variants
Samples
Known GenesTHUMPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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