A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646901



Internal ID21595206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123246733..123246733hg38UCSC Ensembl
chr12:123731280..123731280hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382664
hg192664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077896
SamplesNA19239
Known GenesC12orf65
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646901
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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