A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442276



Internal ID220705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39864504..40005253hg38UCSC Ensembl
chr2:40091644..40232393hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38140750
hg19140750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911514
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442276
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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