A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911539



Internal ID8458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40233843..40249290hg38UCSC Ensembl
chr2:40460983..40476430hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815448
hg1915448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441615
Supporting Variants
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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