A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758451



Internal ID20534311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222090175..222090175hg38UCSC Ensembl
chr1:222263517..222263517hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278008
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758451
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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