A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898654



Internal ID173242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234261502..234263971hg38UCSC Ensembl
chr1:234397248..234399717hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382470
hg192470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436357
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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