A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976116



Internal ID51477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139403857..139404073hg38UCSC Ensembl
chr5:138739546..138739762hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467771
Supporting Variants
Samples
Known GenesSPATA24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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