A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446427



Internal ID224750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50270066..50287607hg38UCSC Ensembl
chr2:50497204..50514745hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3817542
hg1917542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913737
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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