A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430040



Internal ID208868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153696132..153696448hg38UCSC Ensembl
chr1:153668608..153668924hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890620
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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