A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530957



Internal ID306925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47764138..47788050hg38UCSC Ensembl
chr20:46392882..46416794hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3823913
hg1923913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732756
Samples
Known GenesSULF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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