A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893121



Internal ID169570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183303362..183367079hg38UCSC Ensembl
chr1:183272497..183336214hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3863718
hg1963718
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556067
Supporting Variants
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893121
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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