A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911189



Internal ID8227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21693459..21693735hg38UCSC Ensembl
chr2:21916331..21916607hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443320
Supporting Variants
Samples
Known GenesLOC645949
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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