A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901217



Internal ID1623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27819715..27820105hg38UCSC Ensembl
chr1:28146226..28146616hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426603
Supporting Variants
Samples
Known GenesSTX12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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