A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008318



Internal ID73180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11784669..11787855hg38UCSC Ensembl
chr8:11642178..11645364hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383187
hg193187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475718
Supporting Variants
Samples
Known GenesNEIL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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