A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444583



Internal ID222954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188276252..188277862hg38UCSC Ensembl
chr2:189140979..189142589hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381611
hg191611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922000
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444583
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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