A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444857



Internal ID223221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196827000..196832000hg38UCSC Ensembl
chr1:196796130..196801130hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894458
Samples
Known GenesCFHR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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