A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905674



Internal ID22680864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35950396..35950528hg38UCSC Ensembl
chr6:35918173..35918305hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448296
Samples
Known GenesSLC26A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905674
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