A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752295



Internal ID20528155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74482672..74482672hg38UCSC Ensembl
chr17:72478811..72478811hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260858
Samples
Known GenesCD300A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752295
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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