A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984772



Internal ID57234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44376274..44376274hg38UCSC Ensembl
chr6:44344011..44344011hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398554
Supporting Variants
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.046457


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