A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087490



Internal ID20654530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28192286..28198418hg38UCSC Ensembl
chr2:28415153..28421285hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386133
hg196133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346600
Supporting Variants
Samples
Known GenesBRE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087490
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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