A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450948



Internal ID229141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48614462..48641280hg38UCSC Ensembl
chr2:48841601..48868419hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3826819
hg1926819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913672
Samples
Known GenesGTF2A1L, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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