A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547544



Internal ID20920745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42218401..42220200hg38UCSC Ensembl
chr21:43638511..43640310hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203989
Samples
Known GenesABCG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547544
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