A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443447



Internal ID221845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60993418..60994269hg38UCSC Ensembl
chr2:61220553..61221404hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914877
Samples
Known GenesPUS10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443447
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