A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015748



Internal ID78144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101929726..101931245hg38UCSC Ensembl
chr8:102941954..102943473hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381520
hg191520
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563982
Supporting Variants
Samples
Known GenesNCALD
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015748
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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