A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922847



Internal ID15988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200712804..200712934hg38UCSC Ensembl
chr2:201577527..201577657hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449782
Supporting Variants
Samples
Known GenesAOX2P, LOC100507140
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922847
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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