A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448835



Internal ID227092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235333057..235333557hg38UCSC Ensembl
chr1:235496372..235496872hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896564
Samples
Known GenesGGPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448835
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