A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420146



Internal ID22478016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56760664..56766814hg38UCSC Ensembl
chr3:56794692..56800842hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386151
hg196151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893187
Supporting Variants
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420146
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