A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663640



Internal ID21611945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52408915..52408915hg38UCSC Ensembl
chr12:52802699..52802699hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095540
SamplesNA19650
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663640
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