A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895744



Internal ID171322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212741957..212742016hg38UCSC Ensembl
chr1:212915299..212915358hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450733
Supporting Variants
Samples
Known GenesNSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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