A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450750



Internal ID228948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9484181..9484250hg38UCSC Ensembl
chr2:9624310..9624379hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909061
Samples
Known GenesIAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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