A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550044



Internal ID323641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84854229..84854229hg38UCSC Ensembl
chr15:85397460..85397460hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702217
Samples
Known GenesALPK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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