A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842914



Internal ID22026557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79040814..79040814hg38UCSC Ensembl
chr10:80800571..80800571hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6247279
Supporting Variants
Samples
Known GenesZMIZ1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842914
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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