A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451750



Internal ID229922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207223646..207231407hg38UCSC Ensembl
chr2:208088370..208096131hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387762
hg197762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924750
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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