A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17841682



Internal ID22025325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51070575..51070575hg38UCSC Ensembl
chr10:52830335..52830335hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6247051
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17841682
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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