A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893298



Internal ID22668357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214758045..214763838hg38UCSC Ensembl
chr2:215622769..215628562hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385794
hg195794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391565
Samples
Known GenesBARD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893298
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