A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492358



Internal ID269573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50991680..50991791hg38UCSC Ensembl
chr10:52751440..52751551hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034769
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492358
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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