A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548026



Internal ID321812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70606640..70606675hg38UCSC Ensembl
chr1:71072323..71072358hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906281
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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