A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130950



Internal ID20697990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32847023..32849297hg38UCSC Ensembl
chr5:32847129..32849403hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386312
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130950
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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