A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447883



Internal ID226174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142668219..142668329hg38UCSC Ensembl
chr2:143425788..143425898hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925352
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447883
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer