A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887648



Internal ID22662641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185179063..185181180hg38UCSC Ensembl
chr4:186100217..186102334hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382118
hg192118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427664
Samples
Known GenesKIAA1430
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887648
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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