A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889624



Internal ID167179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114779286..114780109hg38UCSC Ensembl
chr1:115321907..115322730hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420789
Supporting Variants
Samples
Known GenesSIKE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889624
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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