A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453183



Internal ID231316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39976127..40026377hg38UCSC Ensembl
chr2:40203267..40253517hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3850251
hg1950251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911522
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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