A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755204



Internal ID20531064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69701692..69701692hg38UCSC Ensembl
chr8:70613927..70613927hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385978
hg195978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292748
Samples
Known GenesSLCO5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755204
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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