A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892459



Internal ID169164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166088307..166088588hg38UCSC Ensembl
chr1:166057544..166057825hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424330
Supporting Variants
Samples
Known GenesFAM78B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892459
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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