A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920511



Internal ID14452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149549618..149642100hg38UCSC Ensembl
chr2:150406132..150498614hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3892483
hg1992483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438204
Supporting Variants
Samples
Known GenesMMADHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920511
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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