A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963450



Internal ID42957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2290000..2339000hg38UCSC Ensembl
chr5:2290114..2339114hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3849001
hg1949001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471629
Supporting Variants
Samples
Known GenesLOC100506858
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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