A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911344



Internal ID8327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28587102..28588533hg38UCSC Ensembl
chr2:28809969..28811400hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443988
Supporting Variants
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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