A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6390567



Internal ID21048120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:103096823..103120143hg38UCSC Ensembl
chr4:104017980..104041300hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3823321
hg1923321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209451
Samples
Known GenesBDH2, CENPE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6390567
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer