A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6111012



Internal ID22020245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30597423..30597423hg38UCSC Ensembl
chr22:30993410..30993410hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17646576
Samples
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6111012
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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