A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529172



Internal ID21853529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136143..131137201hg38UCSC Ensembl
chr2:131893716..131894774hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5986382
Supporting Variants
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529172
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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