A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899282



Internal ID297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18231368..18233386hg38UCSC Ensembl
chr1:18557862..18559880hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418989
Supporting Variants
Samples
Known GenesIGSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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