A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012432



Internal ID75965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58569674..58623190hg38UCSC Ensembl
chr8:59482233..59535749hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3853517
hg1953517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489875
Supporting Variants
Samples
Known GenesNSMAF, SDCBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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