A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442835



Internal ID221248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194425620..194435294hg38UCSC Ensembl
chr1:194394750..194404424hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg389675
hg199675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894425
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442835
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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