A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761753



Internal ID20537613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57848858..57848858hg38UCSC Ensembl
chr17:55926219..55926219hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281340
Samples
Known GenesMRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761753
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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