A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753080



Internal ID20528940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124141833..124141833hg38UCSC Ensembl
chr8:125154074..125154074hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266464
Samples
Known GenesFER1L6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753080
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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