A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435189



Internal ID213842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70122989..70125815hg38UCSC Ensembl
chr2:70350121..70352947hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914045
Samples
Known GenesLOC100133985
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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