A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919216



Internal ID13583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136143..131137199hg38UCSC Ensembl
chr2:131893716..131894772hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434433
Supporting Variants
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.018108


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