A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922304



Internal ID15627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172591542..172591749hg38UCSC Ensembl
chr2:173456270..173456477hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443409
Supporting Variants
Samples
Known GenesPDK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922304
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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