A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875929



Internal ID22650888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160194145..160194458hg38UCSC Ensembl
chr1:160163935..160164248hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367913
Samples
Known GenesCASQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875929
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