A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642713



Internal ID21591018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144618001..144618001hg38UCSC Ensembl
chr5:143997564..143997564hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120656
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642713
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