A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149821



Internal ID21474564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:722483..722483hg38UCSC Ensembl
chr7:762120..762120hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624608
Supporting Variants
SamplesHG03371
Known GenesPRKAR1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149821
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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