A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462581



Internal ID240507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179299330..179508799hg38UCSC Ensembl
chr5:178726331..178935800hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38209470
hg19209470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976907
Samples
Known GenesADAMTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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