A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423641



Internal ID22481511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169226765..169228096hg38UCSC Ensembl
chr3:168944553..168945884hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893634
Supporting Variants
Samples
Known GenesMECOM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423641
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