A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911556



Internal ID8472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40301781..40302820hg38UCSC Ensembl
chr2:40528921..40529960hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435723
Supporting Variants
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911556
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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