A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434699



Internal ID213367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183967519..184265941hg38UCSC Ensembl
chr2:184832246..185130668hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38298423
hg19298423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921924
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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