A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057963



Internal ID106488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62813931..62813934hg38UCSC Ensembl
chr12:63207711..63207714hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417883
Supporting Variants
Samples
Known GenesPPM1H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004995


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