A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900643



Internal ID22675786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134305367..134307576hg38UCSC Ensembl
chr6:134626505..134628714hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382210
hg192210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429480
Samples
Known GenesSGK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900643
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