A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447487



Internal ID225790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225825533..225849321hg38UCSC Ensembl
chr2:226690249..226714037hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3823789
hg1923789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928414
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447487
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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