A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441119



Internal ID219601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226715940..226754502hg38UCSC Ensembl
chr1:226903641..226942203hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3838563
hg1938563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896843
Samples
Known GenesITPKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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