A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917780



Internal ID12593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127692945..127692996hg38UCSC Ensembl
chr2:128450519..128450570hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413245
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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