A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447591



Internal ID225890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97351590..97659686hg38UCSC Ensembl
chr2:98025031..98276149hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38308097
hg19251119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916821
Samples
Known GenesACTR1B, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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