A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451832



Internal ID230001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173508755..173599826hg38UCSC Ensembl
chr3:173226545..173317616hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3891072
hg1991072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942806
Samples
Known GenesNLGN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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