A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054056



Internal ID103870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22299622..22299622hg38UCSC Ensembl
chr12:22452556..22452556hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545626
Supporting Variants
Samples
Known GenesST8SIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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