A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647890



Internal ID21596195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10262802..10262802hg38UCSC Ensembl
chr12:10415401..10415401hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076499
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647890
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