A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764348



Internal ID20540208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57300988..57300988hg38UCSC Ensembl
chr5:56596815..56596815hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295074
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764348
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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