A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927348



Internal ID18945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177993252..177994374hg38UCSC Ensembl
chr2:178857979..178859101hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381123
hg191123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448051
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927348
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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