A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644440



Internal ID21592745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:652420..652420hg38UCSC Ensembl
chr7:692057..692057hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157059
SamplesHG03065
Known GenesPRKAR1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644440
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