A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884810



Internal ID22659794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244853207..244854321hg38UCSC Ensembl
chr1:245016509..245017623hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361702
Samples
Known GenesHNRNPU
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884810
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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