A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951789



Internal ID22727134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28562540..28562540hg38UCSC Ensembl
chr2:28785407..28785407hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401488
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951789
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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