A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924762



Internal ID17254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207405070..207405073hg38UCSC Ensembl
chr2:208269794..208269797hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413642
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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