A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757279



Internal ID20533139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43183576..43183576hg38UCSC Ensembl
chr2:43410715..43410715hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273371
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757279
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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