A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443570



Internal ID221965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49959252..49965460hg38UCSC Ensembl
chr2:50186390..50192598hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386209
hg196209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725870
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443570
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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