A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902023



Internal ID2144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35185661..35185801hg38UCSC Ensembl
chr1:35651262..35651402hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423186
Supporting Variants
Samples
Known GenesSFPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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