A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889474



Internal ID22664492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7561511..7561713hg38UCSC Ensembl
chr4:7563238..7563440hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415818
Samples
Known GenesSORCS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889474
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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