A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663752



Internal ID21612057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52752210..52752210hg38UCSC Ensembl
chr12:53145994..53145994hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096861
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663752
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