A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754471



Internal ID20530331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30752236..30752236hg38UCSC Ensembl
chr16:30763557..30763557hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294512
Samples
Known GenesPHKG2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754471
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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