A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148843



Internal ID21488759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:603598..603598hg38UCSC Ensembl
chr7:643235..643235hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5628993
Supporting Variants
SamplesNA18939
Known GenesPRKAR1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148843
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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