A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906616



Internal ID5195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92572526..92576164hg38UCSC Ensembl
chr1:93038083..93041721hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383639
hg193639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432374
Supporting Variants
Samples
Known GenesEVI5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906616
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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