A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473601



Internal ID251287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147123793..147173064hg38UCSC Ensembl
chr6:147444929..147494200hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3849272
hg1949272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989888
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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