A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421748



Internal ID200810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79112209..79390783hg38UCSC Ensembl
chr1:79577894..79856468hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38278575
hg19278575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905202
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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