A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919057



Internal ID13470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148189283..148211261hg38UCSC Ensembl
chr2:148946852..148968830hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3821979
hg1921979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447821
Supporting Variants
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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