A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544572



Internal ID318703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138827574..138827611hg38UCSC Ensembl
chr6:139148711..139148748hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970847
Samples
Known GenesECT2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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