A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444504



Internal ID222874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122009047..122009192hg38UCSC Ensembl
chr3:121727894..121728039hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939464
Samples
Known GenesILDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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