A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875301



Internal ID22650259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193973940..193976569hg38UCSC Ensembl
chr1:193943070..193945699hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382630
hg192630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361550
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875301
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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