A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437459



Internal ID216047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171953215..171955454hg38UCSC Ensembl
chr2:172809733..172811975hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382240
hg192243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922500
Samples
Known GenesHAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437459
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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