A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897659



Internal ID172597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240291151..240291202hg38UCSC Ensembl
chr1:240454451..240454502hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383507
hg193507
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556279
Supporting Variants
Samples
Known GenesFMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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