A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899130



Internal ID192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244189454..244189587hg38UCSC Ensembl
chr1:244352756..244352889hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449402
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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