A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901876



Internal ID2047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46556854..46557144hg38UCSC Ensembl
chr1:47022526..47022816hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430748
Supporting Variants
Samples
Known GenesMKNK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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