A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744528



Internal ID20520527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116678849..116679573hg38UCSC Ensembl
chr8:117691088..117691812hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284156
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744528
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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