A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404782



Internal ID184128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7126152..7126203hg38UCSC Ensembl
chr2:7266283..7266334hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909353
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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