A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4731376



Internal ID20507296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100098832..100098894hg38UCSC Ensembl
chr8:101111060..101111122hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291777
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4731376
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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