A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088123



Internal ID20655163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28606607..28613177hg38UCSC Ensembl
chr2:28829474..28836044hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386571
hg196571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341889
Supporting Variants
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088123
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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