A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413051



Internal ID192349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183192272..183192323hg38UCSC Ensembl
chr1:183161407..183161458hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893113
Samples
Known GenesLAMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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