A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087632



Internal ID20654672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56000437..56001071hg38UCSC Ensembl
chr2:56227572..56228206hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337084
Supporting Variants
Samples
Known GenesMIR216B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087632
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00055


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