A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750993



Internal ID20526853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53269027..53269027hg38UCSC Ensembl
chr20:51885566..51885566hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272721
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750993
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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