A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899125



Internal ID188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244138925..244138976hg38UCSC Ensembl
chr1:244302227..244302278hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412111
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899125
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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