A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754704



Internal ID20530564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30470254..30470254hg38UCSC Ensembl
chr17:28797272..28797272hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262352
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754704
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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