A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010825



Internal ID74850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47968251..47968306hg38UCSC Ensembl
chr8:48880811..48880866hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483297
Supporting Variants
Samples
Known GenesMCM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010825
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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