A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443374



Internal ID221775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188702380..188841245hg38UCSC Ensembl
chr1:188671511..188810376hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38138866
hg19138866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893729
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443374
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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