A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913004



Internal ID9416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50561249..50608253hg38UCSC Ensembl
chr2:50788387..50835391hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3847005
hg1947005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435653
Supporting Variants
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913004
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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