A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903967



Internal ID22679140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217206127..217218855hg38UCSC Ensembl
chr2:218070850..218083578hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3812729
hg1912729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391024
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903967
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