A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448337



Internal ID226616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198732825..198733078hg38UCSC Ensembl
chr2:199597549..199597802hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927833
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448337
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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