A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572875



Internal ID21521269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53203252..53215869hg38UCSC Ensembl
chr4:54069419..54082036hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812618
hg1912618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131700
SamplesHG03486
Known GenesSCFD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572875
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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