A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014287



Internal ID77194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103134559..103134610hg38UCSC Ensembl
chr8:104146787..104146838hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558580
Supporting Variants
Samples
Known GenesC8orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014287
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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