A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913730



Internal ID9900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50225309..50225443hg38UCSC Ensembl
chr2:50452447..50452581hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435830
Supporting Variants
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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