A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750812



Internal ID20526672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41670726..41670726hg38UCSC Ensembl
chr17:39826978..39826978hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381926
hg191926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275501
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750812
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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