A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548491



Internal ID322238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499367..128499704hg38UCSC Ensembl
chr7:128139421..128139758hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005177
Samples
Known GenesMETTL2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548491
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