A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765451



Internal ID20541311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49125743..49125743hg38UCSC Ensembl
chr17:47203105..47203105hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283416
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765451
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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