A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056964



Internal ID105813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29400349..29400407hg38UCSC Ensembl
chr12:29553282..29553340hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503714
Supporting Variants
Samples
Known GenesOVCH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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