A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445947



Internal ID224282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202354841..202357541hg38UCSC Ensembl
chr2:203219564..203222264hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv292n206
Supporting Variantsnssv16922906
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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