A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17032213



Internal ID89181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24411296..24411328hg38UCSC Ensembl
chr10:24700225..24700257hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411071
Supporting Variants
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17032213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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