A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689477



Internal ID113143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80799341..80799392hg38UCSC Ensembl
chr12:81193120..81193171hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558803
Supporting Variants
Samples
Known GenesLIN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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