A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751619



Internal ID20527479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135273378..135273378hg38UCSC Ensembl
chr5:134609068..134609068hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266992
Samples
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751619
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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