A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753821



Internal ID20529681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42520414..42520414hg38UCSC Ensembl
chr8:42377937..42377937hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382332
hg192332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262368
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753821
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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