A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430375



Internal ID209185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22164670..22167482hg38UCSC Ensembl
chr1:22491163..22493975hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382813
hg192813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902321
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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