A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968643



Internal ID22743578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26661919..26661919hg38UCSC Ensembl
chr22:27057883..27057883hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400912
Samples
Known GenesMIAT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968643
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