A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434250



Internal ID212930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187819095..187852631hg38UCSC Ensembl
chr2:188683822..188717358hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3833537
hg1933537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921960
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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