A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644297



Internal ID21592602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172076207..172076207hg38UCSC Ensembl
chr5:171503211..171503211hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131568
SamplesNA19238
Known GenesSTK10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644297
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