A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893133



Internal ID169580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183396179..183406063hg38UCSC Ensembl
chr1:183365314..183375198hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389885
hg199885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443475
Supporting Variants
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893133
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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