A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927343



Internal ID18942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177964455..177964916hg38UCSC Ensembl
chr2:178829182..178829643hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439779
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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