A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754647



Internal ID20530507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196948823..196948823hg38UCSC Ensembl
chr3:196675694..196675694hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16268341
Samples
Known GenesPIGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754647
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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