A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449878



Internal ID228103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212951818..212952427hg38UCSC Ensembl
chr1:213125160..213125769hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896992
Samples
Known GenesVASH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449878
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