A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493220



Internal ID270409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44883774..44883827hg38UCSC Ensembl
chr7:44923373..44923426hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995529
Samples
Known GenesPURB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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