A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444648



Internal ID223019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208225562..208232716hg38UCSC Ensembl
chr2:209090286..209097440hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387155
hg197155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928051
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444648
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