A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445079



Internal ID223438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204716608..204716782hg38UCSC Ensembl
chr2:205581331..205581505hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924389
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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