A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550032



Internal ID323631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160006543..160006543hg38UCSC Ensembl
chr1:159976333..159976333hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891343
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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