A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404252



Internal ID22462122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46502461..46502461hg38UCSC Ensembl
chr22:46898358..46898358hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977143
Supporting Variants
Samples
Known GenesCELSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404252
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