A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974017



Internal ID50054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134526309..134526473hg38UCSC Ensembl
chr5:133861999..133862163hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459236
Supporting Variants
Samples
Known GenesJADE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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