A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922875



Internal ID16009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201036734..201043000hg38UCSC Ensembl
chr2:201901457..201907723hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386267
hg196267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449374
Supporting Variants
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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