A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540008



Internal ID314855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64643191..64643191hg38UCSC Ensembl
chr8:65555748..65555748hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013615
Samples
Known GenesCYP7B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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