A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627858



Internal ID21576163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:603814..603814hg38UCSC Ensembl
chr7:643451..643451hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17144947
SamplesHG00513
Known GenesPRKAR1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627858
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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