A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443429



Internal ID221828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40315396..40315934hg38UCSC Ensembl
chr2:40542536..40543074hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911558
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443429
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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