A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397806



Internal ID177210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123474588..123474639hg38UCSC Ensembl
chr7:123114642..123114693hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001503
Samples
Known GenesIQUB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397806
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