A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757781



Internal ID20533641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126584660..126584660hg38UCSC Ensembl
chr5:125920352..125920352hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289907
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757781
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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