A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925697



Internal ID17881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225548912..225551207hg38UCSC Ensembl
chr2:226413628..226415923hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382296
hg192296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442940
Supporting Variants
Samples
Known GenesNYAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925697
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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