A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928011



Internal ID19380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207911828..207911927hg38UCSC Ensembl
chr2:208776552..208776651hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434786
Supporting Variants
Samples
Known GenesPLEKHM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928011
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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