A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611085



Internal ID21559390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75939813..75939813hg38UCSC Ensembl
chr2:76166939..76166939hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg386115
hg196115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113663
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611085
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