A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549620



Internal ID323258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143313526..143313565hg38UCSC Ensembl
chr4:144234679..144234718hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956469
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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