A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891087



Internal ID168234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160690948..160699218hg38UCSC Ensembl
chr1:160660738..160669008hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388271
hg198271
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147402
Supporting Variants
Samples
Known GenesCD48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891087
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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