A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011878



Internal ID75583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68003318..68007507hg38UCSC Ensembl
chr8:68915553..68919742hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg384190
hg194190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486425
Supporting Variants
Samples
Known GenesPREX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011878
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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