A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494488



Internal ID271629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29846983..29847196hg38UCSC Ensembl
chr12:29999916..30000129hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057012
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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