A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400392



Internal ID22458262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12465983..12467762hg38UCSC Ensembl
chr2:12606109..12607888hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886388
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400392
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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