A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011974



Internal ID75649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69518979..69553613hg38UCSC Ensembl
chr8:70431214..70465848hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3834635
hg1934635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478226
Supporting Variants
Samples
Known GenesSULF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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