A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408368



Internal ID22466238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84906117..84906387hg38UCSC Ensembl
chr2:85133241..85133511hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883568
Supporting Variants
Samples
Known GenesTMSB10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408368
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