A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754129



Internal ID20529989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64643099..64643099hg38UCSC Ensembl
chr8:65555656..65555656hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289301
Samples
Known GenesCYP7B1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754129
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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