A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688823



Internal ID112489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68480353..68480404hg38UCSC Ensembl
chr12:68874133..68874184hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420306
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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