A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450802



Internal ID228997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52687973..52799675hg38UCSC Ensembl
chr2:52915111..53026813hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38111703
hg19111703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv268n206
Supporting Variantsnssv16912778
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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