A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654341



Internal ID21602646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14843251..14843251hg38UCSC Ensembl
chr12:14996185..14996185hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079094
SamplesNA19239
Known GenesART4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654341
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