A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952630



Internal ID22727940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42192380..42192380hg38UCSC Ensembl
chr6:42160118..42160118hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449051
Samples
Known GenesGUCA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952630
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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