A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000251



Internal ID67753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107072730..107072766hg38UCSC Ensembl
chr7:106713175..106713211hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542818
Supporting Variants
Samples
Known GenesPRKAR2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00562


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